依據此篇研究與先前文獻的分析結果，基本上沒有任何一種方法可以偵測 基因組所有的結構變異，且依照先前文獻的發現，小於 50 Kb 的 CNV 在基因組 中出現的頻率更高，所以採用解析度愈高的 Olio-Array 或 SNP Array，愈適合用 來做 CNV 的研究，然而高解析度的 Arry CGH 平台雖然可以看到更多的 CNV 訊 息，但在臨床報告的解釋上卻不一定是有幫助的，由於大多數的 CNV 與人類健 康、疾病的關係仍不清楚，同時 CNV 的存在並不會直接的導致疾病發生，因此 揭露大量的基因組劑量變異訊息，反而會造成遺傳諮詢的困擾，尤其絕大多數的 Mmicrodeletion/ Microduplication Syndrome 是由大於 1~2 Mb 的 DNA 片段變化所 造成的，所以增加分析平台的解析度，並不會增加遺傳疾病的偵測率(33)，因此 此篇研究所採用的 CMDX Bac Array，雖然解析度僅 1 Mb 左右，但其在全基因 組選取適當的探針，並在相關致病基因的位置增加探針的密度，平均每個個體可 觀察到的良性 CNV 次數僅為 4 次左右，比其他文獻所使用的分析平台要少得多，
故這樣的分析平台較適合應用在產前或臨床診斷上，特別是當產前超音波影像分 析異常，或者已知個體有異常表型，但 Karyotyping 並沒有發現異狀時，利用 Bac Array 來做進一步的檢查、診斷，是非常可靠而且有效率的，甚至可因此鑑別新 的致病基因，或新的 Mmicrodeletion/ Microduplication Syndrome。
此篇研究分析了 1015 個個體，鑑別基因組劑量變異的好發位置，建立了屬 於台灣族群 CNV 的圖譜，補足現行 CNV 資料庫、亞洲族群分析樣本不足、族 群變異性不足的缺點，同時也發現了少數先前文獻未報導過的罕見 CNV，可以 供作臨床診斷或研究的參考。
參考文獻
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附錄：台灣族群CNV發生位置與頻率一覽表
End Clone Name CNVR Event
CNVR (%)
Popul.
(%) 622976 802152 RP11-206L10 5 0.08% 0.49%
730704 893787 RP11-668E2 16 0.27% 1.58%
p36.32 1 0.10% 4356201 4538331 RP11-111O5 1 0.02% 0.10%
11143717 11308518 RP11-28P4 1 0.02% 0.10%
12351275 12462906 RP4-636F13 1 0.02% 0.10%
12753712 12934179 RP11-907J20 28 0.47% 2.76%
13228470 13388043 RP11-204E16 23 0.38% 2.27%
p34.2 1 0.10% 41525520 41714392 RP11-655J1 1 0.02% 0.10%
47311175 47483419 RP11-624P10 1 0.02% 0.10%
47355247 47536716 RP11-742I1 1 0.02% 0.10%
p22.3 3 0.30% 85485485 85694513 RP11-449P23 3 0.05% 0.30%
95708140 95861123 RP11-48A6 1 0.02% 0.10%
99299348 99448949 RP11-89P12 2 0.03% 0.20%
142650738 142806916 RP11-463I6 1 0.02% 0.10%
144174221 144361891 RP11-30I17 3 0.05% 0.30%
144706445 144862226 RP11-780O23 1 0.02% 0.10%
147538833 147702161 RP11-160L8 6 0.10% 2.71%
q23.1 1 0.10% 155892292 156056457 RP11-68N5 1 0.02% 0.10%
q23.3 3 0.30% 162713598 162895106 RP11-134M3 3 0.05% 0.30%
244944068 245106860 RP11-102B17 1 0.02% 0.10%
245382614 245545837 RP11-360J3 1 0.02% 0.10%
245809744 245972563 RP11-77I18 1 0.02% 0.10%
chr1 84
q21.1 11 1.08%
p21.3
附錄：台灣族群CNV發生位置與頻率一覽表
End Clone Name CNVR Event
CNVR (%)
Popul.
(%) 246175941 246341428 RP11-121O22 1 0.02% 0.10%
246768571 246944046 RP11-378I20 8 0.13% 0.79%
44189 230596 RP11-664N22 2 0.03% 0.20%
333841 497043 RP11-60K6 3 0.05% 0.30%
883970 1026826 RP11-123C13 1 0.02% 0.10%
p25.2 1 0.10% 4438703 4606948 RP11-59O9 1 0.02% 0.10%
p24.3 3 0.30% 13868637 14051764 RP11-794I18 3 0.05% 0.30%
p16.3 1 0.10% 50837941 51003975 RP11-780H1 1 0.02% 0.10%
p16.1 1 0.10% 57007808 57160561 RP11-81L7 1 0.02% 0.10%
81636068 81792654 RP11-799D9 2 0.03% 0.20%
82146305 82293616 RP11-775D7 1 0.02% 0.10%
87187122 87385778 RP11-1080K19 9 0.15% 0.89%
87649620 87827692 RP11-1030A21 9 0.15% 0.89%
89028072 89200771 RP11-483P7 52 0.87% 5.12%
89561790 89717265 RP11-62I20 59 0.98% 5.81%
89800710 89958566 RP11-433C18 57 0.95% 5.62%
p11.2-p11.1 2 0.20% 90993186 91155050 RP11-641O22 2 0.03% 0.20%
p11.1 46 4.53% 91670045 91679791 RP11-90E3 45 0.75% 20.36%
94690032 94858599 RP11-134N21 8 0.13% 0.79%
94953146 95132040 RP11-317D19 1 0.02% 0.10%
q12.2 1 0.10% 105976810 106154022 RP11-798K13 1 0.02% 0.10%
q12.3 1 0.10% 106871334 107053741 RP11-464P18 1 0.02% 0.10%
q13 1 0.10% 111344519 111495247 RP11-1144O16 1 0.02% 0.10%
15.47%
附錄：台灣族群CNV發生位置與頻率一覽表
End Clone Name CNVR Event
CNVR (%)
Popul.
(%)
q14.1 1 0.10% 114990964 115147046 RP11-28I10 1 0.02% 0.10%
q14.3 8 0.79% 125735605 125901144 RP11-11G20 8 0.13% 0.79%
q22.2 2 0.20% 143922717 144089691 RP11-298B2 2 0.03% 0.20%
q31.1 1 0.10% 174967371 175153504 RP11-780C22 1 0.02% 0.10%
227076 227427 CTC-228K22 1 0.02% 0.10%
943122 1120651 RP11-105L21 2 0.03% 0.20%
1130610 1325575 RP11-696M8 1 0.02% 0.10%
59980796 60159008 RP11-812I4 1 0.02% 0.10%
60022762 60191344 RP11-418E13 1 0.02% 0.10%
60556809 60707635 RP11-280N4 1 0.02% 0.10%
64352431 64528692 RP11-14D22 1 0.02% 0.45%
68008075 68170632 RP11-384L17 1 0.02% 0.10%
68448766 68609004 RP11-692D4 1 0.02% 0.10%
p12.1 1 0.10% 86540469 86711505 RP11-375C4 1 0.02% 0.10%
95279371 95439150 RP11-259L20 1 0.02% 0.10%
97494757 97643916 RP11-162D8 1 0.02% 0.10%
q13.33 1 0.10% 120926865 121091380 RP11-169N13 1 0.02% 0.10%
174574124 174732545 RP11-198D7 1 0.02% 0.10%
176545003 176724570 RP11-292L5 2 0.03% 0.20%
q28 1 0.10% 193557831 193718283 RP11-151M22 1 0.02% 0.10%
194902965 195114828 RP11-326J2 1 0.02% 0.10%
197126284 197313351 RP11-480A16 2 0.03% 0.20%
p16.2-p16.1 2 0.20% 5094266 5290815 RP11-326O23 3 0.05% 0.30%
chr3 19
附錄：台灣族群CNV發生位置與頻率一覽表
End Clone Name CNVR Event
CNVR (%)
Popul.
(%)
p16.1 74 7.29% 8520656 8687196 RP11-301J10 74 1.23% 7.29%
p13 1 0.10% 44518741 44676568 RP11-105F21 1 0.02% 0.10%
p11 4 0.39% 48760589 48941257 RP11-620D19 4 0.07% 0.39%
q12 3 0.30% 55797692 55998510 RP11-504F11 3 0.05% 0.30%
q13.1 3 0.30% 60608378 60768901 RP11-91C3 4 0.07% 0.39%
q21.3 1 0.10% 87452063 87629591 RP11-164I21 1 0.02% 0.10%
q28.3 1 0.10% 136343075 136488904 RP11-351L8 1 0.02% 0.10%
q34.3 4 0.39% 179787284 179926971 RP11-630J16 3 0.05% 0.30%
q35.1 1 0.10% 184365857 184561775 RP11-451F20 1 0.02% 0.10%
188403361 188555573 RP11-152O24 2 0.03% 0.20%
188879765 189042572 RP11-92A7 2 0.03% 0.20%
189391176 189553650 RP11-1141D18 1 0.02% 0.10%
189850975 190012097 RP11-256D4 1 0.02% 0.10%
9664912 9839469 RP11-110O8 1 0.02% 0.10%
9816110 10020490 RP11-654J7 1 0.02% 0.10%
7.09% 15627290 15780983 RP11-135M13 1 0.02% 0.10%
0.00% 17465586 17591042 RP11-91D21 71 1.18% 7.00%
p14.1 1 0.10% 28714511 28864672 RP11-195G17 1 0.02% 0.10%
p13.2 2 0.20% 36941080 37112868 RP11-705K7 2 0.03% 0.20%
p13.1 1 0.10% 41021892 41168355 RP11-722F5 1 0.02% 0.10%
44848627 45022904 RP11-246L1 2 0.03% 0.20%
45454078 45784678 RP11-97B16 1 0.02% 0.10%
p11 2 0.20% 46180429 46358622 RP11-63E15 2 0.03% 0.20%
9.56%
附錄：台灣族群CNV發生位置與頻率一覽表
End Clone Name CNVR Event
CNVR (%)
Popul.
(%)
q11.2 1 0.10% 57339914 57537646 RP11-941D3 1 0.02% 0.10%
q12.1 1 0.10% 62461023 62605518 RP11-160F19 1 0.02% 0.10%
q13.1 1 0.10% 67278115 67419794 RP11-26L9 1 0.02% 0.10%
69364823 69448911 CTD-2041D13 86 1.43% 8.47%
70073062 70247704 RP11-74H23 63 1.05% 6.21%
70234685 70425356 RP11-195E2 72 1.20% 7.09%
70296260 70475039 RP11-482B7 42 0.70% 4.14%
q21.1 1 0.10% 100154922 100338373 RP11-143D12 1 0.02% 0.10%
q23.3 2 0.20% 128623899 128811151 RP11-203A10 2 0.03% 0.20%
q32 1 0.10% 145497943 145726441 RP11-876L8 1 0.02% 0.10%
q35.2 1 0.10% 172851020 173016219 RP11-346N16 1 0.02% 0.10%
q35.3 1 0.10% 177591246 177742659 RP11-2I16 1 0.02% 0.10%
231044 357479 CTD-2249D1 169 2.82% 16.65%
1381240 1568545 RP11-42D22 1 0.02% 0.10%
1793859 1992653 RP11-1103I2 1 0.02% 0.10%
p25.1 1 0.10% 5293472 5443772 RP11-1I14 1 0.02% 0.10%
17955036 18121418 RP11-90M17 1 0.02% 0.10%
21424579 21545525 RP1-135L22 2 0.03% 0.20%
p22.1 1 0.10% 29073892 29203316 RP1-88J8 1 0.02% 0.10%
p21.33 9 0.89% 29863159 30014486 RP11-71C20 9 0.15% 0.89%
p21.32 1 0.10% 32843695 33023853 RP11-10A19 1 0.02% 0.10%
p12.3 2 0.20% 45964230 46145363 RP11-11H19 2 0.03% 0.20%
p11.2 1 0.10% 57501590 57681850 RP11-637D3 1 0.02% 0.10%
chr5 200
附錄：台灣族群CNV發生位置與頻率一覽表
End Clone Name CNVR Event
CNVR (%)
Popul.
(%)
q11.1 1 0.10% 62379845 62576993 RP11-164C22 1 0.02% 0.10%
q12 1 0.10% 69911578 70090135 RP11-622F12 1 0.02% 0.10%
92756130 92944280 RP11-451J5 1 0.02% 0.10%
96397095 96562812 RP11-386J20 1 0.02% 0.10%
q21 1 0.10% 107812833 107967471 RP1-67A8 1 0.02% 0.10%
q22.1 1 0.10% 115088963 115242892 RP11-122B15 1 0.02% 0.10%
q22.31 2 0.20% 119974543 120136481 RP11-765A3 2 0.03% 0.20%
q24.1 2 0.20% 140635836 140723070 RP1-217O16 2 0.03% 0.20%
q25.2 1 0.10% 153821550 153994956 RP11-198L11 1 0.02% 0.10%
q26 1 0.10% 162343450 162535020 RP11-456M6 1 0.02% 0.10%
168170160 168359681 RP11-114E13 1 0.02% 0.10%
170655599 170792198 CTD-2011D14 2 0.03% 0.20%
p22.2 1 0.10% 3026370 3185513 RP11-234N20 1 0.02% 0.10%
p21.3 1 0.10% 12020181 12160876 RP11-79O21 1 0.02% 0.10%
p21.1 1 0.10% 17213145 17376129 RP11-1007J4 1 0.02% 0.10%
p14.1 1 0.10% 42264550 42467165 RP11-429N13 1 0.02% 0.10%
p12.3 1 0.10% 46811922 46974907 RP11-51N15 1 0.02% 0.10%
p12.1 1 0.10% 52601653 52771400 RP11-871A24 1 0.02% 0.10%
p11.2 1 0.10% 54607136 54784743 RP11-449G3 1 0.02% 0.10%
q11.1-q11.21 7 0.69% 61096752 61270745 RP11-1025O20 7 0.12% 0.69%
61608951 61789025 RP11-626C15 1 0.02% 0.10%
62966021 63119691 RP11-248G15 1 0.02% 0.10%
64668252 64771093 RP11-644D10 6 0.10% 0.59%
19.90%
q11.21 10 0.99%
附錄：台灣族群CNV發生位置與頻率一覽表
End Clone Name CNVR Event
CNVR (%)
Popul.
(%) 64708585 64864970 RP11-489G16 3 0.05% 0.30%
65966133 66119326 RP11-214K14 1 0.02% 0.10%
q11.22-q11.23 4 0.39% 71658313 71830847 RP11-35P20 4 0.07% 0.39%
73343780 73537332 RP11-351B3 1 0.02% 0.10%
73785125 73944776 RP11-89A20 1 0.02% 0.10%
74852506 75029107 RP11-605K23 2 0.03% 0.20%
75967888 76118659 RP11-1113B10 2 0.03% 0.20%
76490995 76687312 RP11-467H10 1 0.02% 0.10%
q21.13 2 0.20% 89163364 89305339 RP11-17A16 2 0.03% 0.20%
q22.2 1 0.10% 105004303 105185493 RP11-135H16 1 0.02% 0.10%
q22.3 1 0.10% 106485513 106660211 RP11-120N6 1 0.02% 0.10%
108768839 108908853 RP11-590B16 1 0.02% 0.10%
110773231 110940607 RP11-635E6 6 0.10% 0.59%
q31.31 2 0.20% 118727269 118925701 RP11-590F14 2 0.03% 0.20%
153024535 153229490 RP11-105P6 3 0.05% 0.30%
153229742 153389164 RP11-30J12 4 0.07% 0.39%
153507185 153713711 RP11-1073N5 1 0.02% 0.10%
153585437 153735765 RP11-317C13 1 0.02% 0.10%
q36.3 1 0.10% 158536683 158689697 RP11-133J16 1 0.02% 0.10%
2303777 2411033 RP11-104H14 22 0.37% 2.17%
3849244 4007372 RP11-243D4 4 0.07% 0.39%
4218952 4386750 RP11-113B7 1 0.02% 0.10%
4789354 4938784 RP11-96P9 1 0.02% 0.10%
0.49%
chr7 52 5.12%
q31.1
q11.23 5
7 0.69%
q36.2 5 0.49%
p23.2 27 2.66%
62
附錄：台灣族群CNV發生位置與頻率一覽表
End Clone Name CNVR Event
CNVR (%)
Popul.
(%) 5271311 5431541 RP11-36I5 1 0.02% 0.10%
5822620 5966061 RP11-95C8 2 0.03% 0.20%
p21.3 1 0.02% 19740415 19927437 RP11-402K21 1 0.02% 0.10%
24912114 25057768 RP11-161N9 1 0.02% 0.10%
25119935 25301066 RP11-652E5 1 0.02% 0.10%
25245698 25406408 RP11-76B12 1 0.02% 0.10%
43602365 43764092 RP11-467N1 5 0.08% 0.49%
43735846 43895573 RP11-32P10 5 0.08% 0.49%
q11.1 2 0.20% 47019365 47126364 RP11-970F14 2 0.03% 0.20%
49230594 49231494 RP11-268N2 1 0.02% 0.10%
49626944 49794697 RP11-208I6 1 0.02% 0.10%
50257354 50395540 RP11-10H3 2 0.03% 0.20%
q12.1 1 0.10% 58007449 58157371 RP11-60J19 1 0.02% 0.10%
q21.13 1 0.10% 81884881 82095247 RP11-819O6 1 0.02% 0.10%
q21.3 1 0.10% 90197490 90371703 RP11-99K4 1 0.02% 0.10%
q24.21 1 0.10% 130828111 130999900 RP11-79E8 1 0.02% 0.10%
264605 419765 RP11-1112G24 2 0.03% 0.20%
442177 642967 RP11-675G5 2 0.03% 0.20%
615306 812246 RP11-130C19 2 0.03% 0.20%
4979026 5111688 RP11-42A14 2 0.03% 0.20%
8228656 8410865 RP11-290M6 1 0.02% 0.10%
p13.3 1 0.10% 33988396 34157504 RP11-148N9 1 0.02% 0.10%
p13.1 46 4.53% 39766263 39963954 RP11-927H19 46 0.77% 4.53%
4.33%
附錄：台灣族群CNV發生位置與頻率一覽表
End Clone Name CNVR Event
CNVR (%)
Popul.
(%) 41071154 41307321 RP11-797M14 59 0.98% 5.81%
41581167 41740982 RP11-105J4 49 0.82% 4.83%
42198320 42370032 RP11-86I14 47 0.78% 4.63%
43662586 43856412 RP11-723O15 86 1.43% 8.47%
44179849 44373479 RP11-984C16 65 1.08% 6.40%
44666649 44848283 RP11-160N1 33 0.55% 3.25%
45506659 45680377 RP11-435A4 26 0.43% 2.56%
66426891 66602753 RP11-318K12 15 0.25% 1.48%
67221726 67374086 RP11-76I5 15 0.25% 1.48%
68635600 68779111 RP11-1114I8 10 0.17% 0.99%
69796362 69975287 RP11-154P18 23 0.38% 2.27%
q21.2 1 0.10% 79838950 79911276 RP11-795D8 1 0.02% 0.10%
q21.31 1 0.10% 81585778 81746774 RP11-31D18 1 0.02% 0.10%
q21.32 1 0.10% 84501653 84667659 RP11-122C19 1 0.02% 0.10%
q22.1 3 0.30% 89865365 90040361 RP11-1061L15 3 0.05% 0.30%
9q34.11-q34.12 2 0.20% 132470385 132643715 RP11-57C19 2 0.03% 0.20%
q34.2 1 0.10% 135572168 135778033 RP11-451N3 1 0.02% 0.10%
q34.3 1 0.10% 137706134 137897355 RP11-498D23 1 0.02% 0.10%
214538 366264 RP11-10D13 4 0.07% 0.39%
461744 638615 RP11-1077M19 4 0.07% 0.39%
34651099 34842954 RP11-452H8 1 0.02% 0.10%
35203904 35380538 RP11-383B9 1 0.02% 0.10%
p11.1 6 0.59% 38946155 39125182 RP11-109B16 6 0.10% 0.59%
chr9 268 26.40%
p12
q12
70 6.90%
p11.2 103 10.15%
p15.3
附錄：台灣族群CNV發生位置與頻率一覽表
End Clone Name CNVR Event
CNVR (%)
Popul.
(%)
q11.1 39 3.84% 41704729 41716128 RP11-81J3 39 0.65% 3.84%
q21.1 2 0.20% 59260247 59432213 RP11-237L11 2 0.03% 0.20%
q21.2 1 0.10% 62550850 62706448 RP11-79H15 1 0.02% 0.10%
103291815 103442009 RP11-68M5 1 0.02% 0.10%
103323201 103508676 RP11-765O11 1 0.02% 0.10%
133629686 133778293 RP11-45A17 1 0.02% 0.10%
134340939 134548854 RP11-288G11 1 0.02% 0.10%
135067049 135251707 RP11-431G18 15 0.25% 1.48%
135079030 135240347 RP11-108K14 18 0.30% 1.77%
p15.5-p15.4 7 0.69% 2759787 2871057 CTD-2226C18 7 0.12% 0.69%
4168465 4353116 RP11-1118C1 39 0.65% 3.84%
3190460 3319716 RP11-1031H14 2 0.03% 0.90%
40322149 40503595 RP11-1068E11 1 0.02% 0.10%
40455382 40654414 RP11-768P16 1 0.02% 0.10%
p11.2 1 0.10% 44196265 44375216 RP11-280B8 1 0.02% 0.10%
p11.2-p11.12 1 0.10% 48641632 48820012 RP11-463K8 1 0.02% 0.10%
p11.12 2 0.20% 51245305 51433879 RP11-828P18 2 0.03% 0.20%
q11 3 0.30% 54983642 55174873 RP11-475G4 3 0.05% 0.30%
q12.1 7 0.69% 58565900 58765261 RP11-1012N1 7 0.12% 0.69%
q12.2 37 3.65% 60573957 60758403 RP11-465F2 37 0.62% 3.65%
q12.3 1 0.10% 62458891 62622065 RP11-488C4 1 0.02% 0.10%
q14.1 2 0.20% 81471789 81648504 RP11-1E8 2 0.03% 0.20%
q14.3 1 0.10% 91047295 91156775 RP11-74L24 1 0.02% 0.10%
7.29%
0.10%
q26.3 20 1.97%
q24.32 1
附錄：台灣族群CNV發生位置與頻率一覽表
End Clone Name CNVR Event
CNVR (%)
Popul.
(%) q22.1-q22.2 1 0.10% 101500552 101687165 RP11-90M3 1 0.02% 0.10%
q22.2 3 0.30% 101724663 101939112 RP11-315O6 3 0.05% 0.30%
q23.3 3 0.30% 118829889 118992228 RP11-62A14 3 0.05% 0.30%
q24.11 1 0.10% 120907159 121086046 RP11-349K14 1 0.02% 0.10%
p13.33 1 0.10% 152513 329664 RP11-283I3 1 0.02% 0.10%
p13.31 6 0.59% 7918347 8062130 RP11-277E18 6 0.10% 0.59%
10845115 11018538 RP11-144O23 1 0.02% 0.10%
11321141 11480339 RP11-90N7 12 0.20% 1.18%
p12.1 1 0.10% 23903839 24058953 RP11-162F10 1 0.02% 0.10%
p11.22 1 0.10% 28345839 28516515 RP11-924M22 1 0.02% 0.10%
p11.21 1 0.10% 33170627 33333327 RP11-460N10 1 0.02% 0.10%
p11.1 1 0.10% 34127734 34291672 RP11-313F23 1 0.02% 0.10%
q12 1 0.10% 38344092 38526440 RP11-553H9 1 0.02% 0.10%
q14.2 1 0.10% 63110965 63280538 RP11-60O8 1 0.02% 0.10%
q21.32 1 0.10% 85151469 85314955 RP11-58K21 1 0.02% 0.10%
q21.33 1 0.10% 89933545 90114298 RP11-917O5 1 0.02% 0.10%
q24.11 1 0.10% 108715934 108907571 RP11-319B22 1 0.02% 0.10%
q24.32 1 0.10% 127319957 127481773 RP11-1103G10 1 0.02% 0.10%
0.20% 130310708 130471421 RP11-146E8 1 0.02% 0.10%
0.00% 131366783 131574912 RP11-357I22 1 0.02% 0.10%
q12.11 1 0.10% 18729484 18809111 CTD-3053A5 1 0.02% 0.10%
q12.12 2 0.20% 23756529 23919964 RP11-521E7 2 0.03% 0.20%
q21.1 1 0.10% 52892079 53074594 RP11-454H21 1 0.02% 0.10%
3.05%
附錄：台灣族群CNV發生位置與頻率一覽表
End Clone Name CNVR Event
CNVR (%)
Popul.
(%)
q21.2 1 0.10% 60785575 60972894 RP11-509O24 1 0.02% 0.10%
q21.31 1 0.10% 63500884 63656227 RP11-10J15 1 0.02% 0.10%
65078855 65222198 RP11-148N3 2 0.03% 0.20%
66064171 66234235 RP11-1007P20 1 0.02% 0.10%
66614909 66786429 RP11-326B4 2 0.03% 0.20%
112739483 112940263 RP11-326K11 2 0.03% 0.20%
112777833 112939731 RP11-98F14 3 0.05% 0.30%
113805195 113967059 RP11-262A6 1 0.02% 0.10%
19273689 19485419 RP11-831B15 279 4.65% 27.49%
20341345 20523996 RP11-89F2 2 0.03% 0.20%
21474792 21636629 RP11-170P20 9 0.15% 0.89%
21636748 21813687 RP11-246A2 35 0.58% 3.45%
21930249 22109381 RP11-990K12 44 0.73% 4.33%
22138643 22343786 RP11-1083M21 1 0.02% 0.10%
24722688 24860156 RP11-180O19 1 0.02% 0.10%
25297721 25474958 RP11-264E8 1 0.02% 0.10%
25791020 25986265 RP11-997B23 1 0.02% 0.10%
26798461 26947540 RP11-194P13 1 0.02% 0.10%
29293930 29458342 RP11-1111O8 2 0.03% 0.20%
q21.1-q21.2 1 0.10% 40873782 41029779 RP11-1134E12 1 0.02% 0.10%
q21.2 8 0.79% 41905205 42060712 RP11-117P10 8 0.13% 0.79%
q24.3 1 0.10% 75570349 75733729 RP11-71M17 1 0.02% 0.10%
q31.2 1 0.10% 83227463 83392181 RP11-799D22 1 0.02% 0.10%
0.39%
chr13 15 1.48%
q21.32
附錄：台灣族群CNV發生位置與頻率一覽表
End Clone Name CNVR Event
CNVR (%)
Popul.
(%) 105265054 105433202 RP11-448N5 3 0.05% 0.30%
105476398 105645662 RP11-259B19 55 0.92% 5.42%
105858039 105929313 CTD-3039D5 427 7.11% 42.07%
105912193 106065910 RP11-683L4 22 0.37% 2.17%
105991433 106084983 RP11-379F22 14 0.23% 1.38%
106099276 106230230 RP11-76N15 10 0.17% 0.99%
106117962 106301951 CTD-2011A5 12 0.20% 1.18%
106224623 106318106 CTD-2313E3 8 0.13% 0.79%
18717261 18874512 RP11-90P3 268 4.46% 26.40%
19106050 19287262 RP11-624A1 265 4.41% 26.11%
19203738 19367754 RP11-138C5 245 4.08% 24.14%
19763871 19914846 RP11-415B7 374 6.23% 36.85%
20361407 20536752 RP11-80H14 5 0.08% 0.49%
20523632 20703023 RP11-452H4 3 0.05% 0.30%
20732386 20912999 RP11-228M15 1 0.02% 0.10%
21439045 21638078 RP11-373J1 1 0.02% 0.10%
22235690 22401831 RP11-104J9 19 0.32% 1.87%
26185054 26346267 RP11-1107G17 3 0.05% 0.30%
27029453 27209685 RP11-650N15 1 0.02% 0.10%
27121297 27288357 RP11-150A20 1 0.02% 0.10%
27297142 27481488 RP11-718G7 1 0.02% 0.10%
27573730 27748282 RP11-300A12 2 0.03% 0.20%
27740710 27905905 RP11-92F7 1 0.02% 0.10%
49.16%
附錄：台灣族群CNV發生位置與頻率一覽表
End Clone Name CNVR Event
CNVR (%)
Popul.
(%) q13.1-q13.2 1 0.10% 27830813 28024200 RP11-360J18 1 0.02% 0.10%
q13.2 28 2.76% 28290234 28449080 RP11-1122O13 28 0.47% 2.76%
30179961 30339317 RP11-115G22 11 0.18% 1.08%
30654159 30830644 RP11-420B6 1 0.02% 0.10%
q21.2 1 0.10% 48810464 48983569 RP11-846K6 1 0.02% 0.10%
q22.1-q22.2 2 0.20% 57065159 57246081 RP11-306H6 2 0.03% 0.20%
94552710 94747821 RP11-134D15 1 0.02% 0.10%
92491963 92661067 RP11-109P8 1 0.02% 0.10%
99707174 99872903 RP11-497M17 1 0.02% 0.10%
99747135 99914584 RP11-530H6 1 0.02% 0.10%
266993 431489 RP11-243K18 1 0.02% 0.10%
990274 1170981 RP11-656J16 1 0.02% 0.10%
2084432 2304090 RP11-846C9 1 0.02% 0.10%
2416830 2417096 CTD-2117I2 3 0.05% 0.30%
2552643 2730046 CTD-2270M10 2 0.03% 0.20%
p13.13 1 0.10% 11420097 11635674 RP11-788A3 1 0.02% 0.10%
15110713 15273942 RP11-97N13 1 0.02% 0.10%
15519951 15681435 RP11-81L19 1 0.02% 0.10%
15681614 15882688 RP11-629E8 2 0.03% 0.20%
15790648 15973627 RP11-844E20 1 0.02% 0.10%
16112598 16307524 RP11-963L5 8 0.13% 0.79%
p12.3 1 0.10% 18035829 18197022 RP11-758H24 1 0.02% 0.10%
21354957 21532552 RP11-98D10 8 0.13% 0.79%
1.08%
p13.11 9 0.89%
p13.3 8
0 79%
p12 2 8
附錄：台灣族群CNV發生位置與頻率一覽表
End Clone Name CNVR Event
CNVR (%)
Popul.
(%) 21509195 21675241 RP11-120F20 1 0.02% 0.10%
p12.2-p12.1 3 0.30% 21655258 21833696 RP11-449K24 3 0.05% 0.30%
22338081 22508571 RP11-368J21 2 0.03% 0.20%
27178754 27319548 RP11-103D22 1 0.02% 0.10%
28058998 28203578 RP11-915B15 4 0.07% 0.39%
29551001 29714202 RP11-180O13 3 0.05% 0.30%
29683738 29869247 RP11-301D18 2 0.03% 0.20%
29893466 30059319 RP11-114A14 2 0.03% 0.20%
29981473 30174456 RP11-455F5 2 0.03% 0.20%
31957577 32156413 RP11-1072P17 14 0.23% 1.38%
32562118 32773200 RP11-499D5 33 0.55% 3.25%
33556226 33754381 RP11-347N4 17 0.28% 1.67%
p11.1 5 0.49% 34476299 34626960 RP11-80F22 5 0.08% 0.49%
65253655 65412816 RP11-114M2 1 0.02% 0.10%
65946409 66146378 RP11-433A16 2 0.03% 0.20%
q22.3 35 3.45% 72892550 73055468 RP11-252A24 35 0.58% 3.45%
q23.3 1 0.10% 81230729 81407271 RP11-606H18 1 0.02% 0.10%
816310 976400 CTD-2237N10 3 0.05% 0.30%
2533625 2726771 RP11-300D15 1 0.02% 0.10%
18948013 19165438 RP11-816G17 150 2.50% 14.78%
20492969 20692357 RP11-142H5 2 0.03% 0.20%
p11.2-p11.1 1 0.10% 21967843 22110995 RP11-125D2 1 0.02% 0.10%
q11.2 1 0.10% 26246069 26422085 RP11-525H19 1 0.02% 0.10%
chr16 120 11.82%
0.79%
p11.2 151 14.88%
p13.3
30 84%
70
附錄：台灣族群CNV發生位置與頻率一覽表
End Clone Name CNVR Event
CNVR (%)
Popul.
(%)
q12 3 0.30% 34003230 34174152 RP11-607B2 3 0.05% 0.30%
q12-q21.1 1 0.10% 35207013 35434692 RP11-387H17 1 0.02% 0.10%
q21.31 1 0.10% 41349283 41528260 RP11-111I23 1 0.02% 0.10%
q21.32 145 14.29% 42087498 42244563 RP11-79O18 145 2.42% 14.29%
q22 5 0.49% 48434265 48595724 RP11-248L3 5 0.08% 0.49%
q24.11 1 0.10% 60311024 60488913 RP11-829P10 1 0.02% 0.10%
p11.31 1 0.10% 6269078 6418978 RP11-19E14 1 0.02% 0.10%
q11.1-q11.2 1 0.10% 17267518 17448560 RP11-311F3 1 0.02% 0.10%
1 0.10% 53192567 53367231 RP11-79L5 1 0.02% 0.10%
1 0.10% 73414443 73593637 RP11-90L3 1 0.02% 0.10%
902925 1095436 RP11-75H6 1 0.02% 0.10%
1331140 1495632 RP11-317H11 1 0.02% 0.10%
1541695 1585189 G248P8411D6 1 0.02% 0.10%
1560821 1602142 G248P81027G3 2 0.03% 0.20%
1756204 1947196 RP11-846C18 1 0.02% 0.10%
7789817 7950264 CTD-3193O13 3 0.05% 0.30%
8721973 8863829 RP11-79F15 314 5.23% 30.94%
20455617 20644162 RP11-106E12 1 0.02% 0.10%
24107907 24108553 RP11-89N18 1 0.02% 0.10%
34827680 35023872 RP11-345J21 1 0.02% 0.10%
36556817 36742905 RP11-18J6 1 0.02% 0.10%
38449070 38638734 RP11-939O22 1 0.02% 0.10%
39390486 39546101 RP11-31D10 1 0.02% 0.10%
chr17 313
0.39%
q21.31 30.84%
chr18 4
chr19 338 33.30%
p13.3 3 0.30%
p13.2 315 31.03%
0.20%
q12 2 0.20%
p12 2
0.20%
q13.11 2
附錄：台灣族群CNV發生位置與頻率一覽表
End Clone Name CNVR Event
CNVR (%)
Popul.
(%)
q13.42 14 1.38% 59909223 60083800 RP11-155P5 14 0.23% 1.38%
p13 1 0.10% 2989984 3165774 RP11-520F6 1 0.02% 0.10%
p12.3 1 0.10% 8035960 8174995 RP11-26K18 1 0.02% 0.10%
p11.23 1 0.10% 20252074 20440763 RP11-470C13 1 0.02% 0.10%
p11.21 1 0.10% 25459775 25610059 RP11-109I22 1 0.02% 0.10%
q13.33 2 0.20% 60192432 60385082 RP11-157P1 2 0.03% 0.20%
p11.2 10 0.99% 9769099 9959643 RP11-430M17 10 0.17% 0.99%
p11.1 6 0.59% 10052189 10187262 RP11-24D17 6 0.10% 0.59%
14590704 14724640 RP11-1144F24 1 0.02% 0.10%
14647682 14865524 RP11-846C20 1 0.02% 0.10%
14765093 14925811 RP11-392H8 1 0.02% 0.10%
21984344 22147565 RP11-990C8 1 0.02% 0.10%
22438185 22617050 RP11-203K3 1 0.02% 0.10%
q22.3 3 0.30% 45594025 45808493 RP11-345F15 3 0.05% 0.30%
16756605 16926481 RP11-168B14 1 0.02% 0.10%
17195001 17392290 RP11-690P21 112 1.87% 11.03%
17448597 17639741 RP11-71J20 3 0.05% 0.30%
18002551 18171177 RP11-652F11 2 0.03% 0.20%
18073347 18286507 RP11-316L10 1 0.02% 0.10%
18259448 18440797 RP11-260L7 1 0.02% 0.10%
18859172 18981817 RP11-586I18 320 5.33% 31.53%
19310295 19458332 RP11-155F20 7 0.12% 0.69%
19565460 19711786 RP11-1116M14 1 0.02% 0.10%
chr20 6 0.59%
0.20%
chr21 22 2.17% q11.2
q21.1 2
1 0.10%
q11.21 318 31.33%
72
附錄：台灣族群CNV發生位置與頻率一覽表
End Clone Name CNVR Event
CNVR (%)
Popul.
(%) q11.22 10 0.99% 20579317 20752897 RP11-481L22 10 0.17% 0.99%
22415519 22596122 RP11-124F9 1 0.02% 0.10%
22800851 22995231 RP11-76E8 2 0.03% 0.20%
22871034 23040012 CTD-2338K23 1 0.02% 0.10%
37259048 37435352 RP11-59O4 2 0.03% 0.20%
37642077 37856194 RP11-1033I2 1 0.02% 0.10%
43960327 44128818 RP11-78A15 1 0.02% 0.10%
46658255 46820515 RP11-66M5 1 0.02% 0.10%
q13.32-q13.33 1 0.02% 48083933 48278974 RP11-98J21 1 0.02% 0.10%
48216045 48259549 G248P83973A7 2 0.03% 0.20%
48255788 48295808 G248P86144C3 2 0.03% 0.20%
48393298 48566243 RP11-697C11 1 0.02% 0.10%
49406228 49444089 G248p85566F9 1 0.02% 0.10%
272927 407714 RP11-91D5 1 0.02% 0.10%
402169 547936 CTD-3128A11 2 0.03% 0.20%
433104 614144 RP11-800K15 1 0.02% 0.10%
482453 619358 CTD-2584M8 1 0.02% 0.10%
1109108 1328943 RP11-892B14 1 0.02% 0.10%
1782036 1929740 RP11-74L17 5 0.08% 0.49%
2201001 2375939 RP11-640A16 5 0.08% 0.49%
2689420 2873864 RP11-802I24 1 0.02% 0.10%
3147893 3332868 RP11-809F20 1 0.02% 0.10%
6513904 6692138 RP11-294K6 8 0.13% 0.79%
33.40%
附錄：台灣族群CNV發生位置與頻率一覽表
End Clone Name CNVR Event
CNVR (%)
Popul.
(%) 6958009 7136799 RP11-483M24 8 0.13% 0.79%
7455636 7633868 RP11-323F16 1 0.02% 0.10%
p21.3 1 0.10% 28360036 28535208 RP11-487M22 1 0.02% 0.10%
p11.21-p11.1 2 0.20% 56571345 56751495 RP11-431N15 2 0.03% 0.20%
q11.1 1 0.10% 63953972 64102032 RP11-922E2 1 0.02% 0.10%
q12 1 0.10% 66222560 66389922 RP11-109N24 1 0.02% 0.10%
q21.33-q22.1 1 0.10% 98110888 98259699 RP11-91K14 1 0.02% 0.10%
q22.2 2 0.20% 102918729 103115179 RP11-771H14 2 0.03% 0.20%
q22.3 1 0.10% 109102727 109309460 RP11-471A8 1 0.02% 0.10%
q24 1 0.10% 120338591 120511529 RP11-893C7 1 0.02% 0.10%
q25 12 1.18% 125404777 125555340 RP11-664P12 12 0.20% 1.18%
148315715 148484642 RP11-195I5 1 0.02% 0.10%
148935632 149102282 RP11-792M20 1 0.02% 0.10%
149154798 149306899 RP11-221G13 1 0.02% 0.10%
150987321 151147751 RP11-110C24 1 0.02% 0.10%
151701063 151881428 RP11-665O24 1 0.02% 0.10%
154597372 154763617 RP11-722P3 2 0.03% 0.20%
2500466 2690572 RP11-990G10 1 0.02% 0.10%
2530482 2721249 RP11-639O7 1 0.02% 0.10%
2550572 2721250 RP11-975F3 1 0.02% 0.10%
10193916 10345898 RP11-1097O22 1 0.02% 0.10%
10283378 10456941 RP11-155J5 2 0.03% 0.20%
q11.223 69 6.80% 23429774 23574981 RP11-247J14 68 1.13% 6.70%
chrX 49
p22.31 10 0.99%
30.64%
4.83%
3
chrY 311 0.30%
q28 3 0.30%
p11.31 5 0.49%
p11.2
74
附錄：台灣族群CNV發生位置與頻率一覽表
Chromo -some #
Case No.
Popul.
(%) Cyto Case
No.
Popul.
(%)
Clone Start
Clone
End Clone Name CNVR Event
CNVR (%)
Popul.
(%) 57236087 57310616 RP11-80F8 222 3.70% 21.87%
57239667 57326818 RP11-88F4 213 3.55% 20.99%
1015 6003 6003 1015
q12 234 23.05%
註：藍色字體顯示者，表示為僅在CA2500 plateform選用的探針；黃色欄位者為在此篇研究中首次發現CNV的位置；粉紅色欄位標示 出CNV發生頻率大於1%者。