Table 1 Overview of samples and copy number variant (CNV) counts included in study
Sample num. | Sample ID | Sample source | Replicate sample count | False-positive CNV count | Known CNV count | Known CNVs | Known CNV count (incl. replicates) |
|---|---|---|---|---|---|---|---|
1 | NA24385 | Coriell gDNA | 1 | 1 | |||
2 | NA02894 | Coriell gDNA | 1 | 1 | 57-kb del | 1 | |
3 | NA04520 | Coriell gDNA | 1 | 1 | 88-kb del | 1 | |
4 | NA05090 | Coriell gDNA | 1 | 1 | 63-kb del | 1 | |
5 | NA06936 | Coriell gDNA | 1 | 1 | 13-Mb del | 1 | |
6 | NA10989 | Coriell gDNA | 1 | 1 | 12-Mb del | 1 | |
7 | NA13554 | Coriell gDNA | 1 | 1 | 42-kb del | 1 | |
8 | NA02422 | Coriell gDNA | 1 | 1 | Trisomy 18 | 1 | |
9 | NA02948 | Coriell gDNA | 1 | 1 | Trisomy 13 | 1 | |
10 | NA05124 | Coriell gDNA | 1 | 1 | 756-kb dup | 1 | |
11 | NA05966 | Coriell gDNA | 1 | 1 | 21-Mb dup | 1 | |
12 | NA09326 | Coriell gDNA | 1 | 1 | XYY | 1 | |
13 | NA09367 | Coriell gDNA | 1 | 1 | 35-Mb dup | 1 | |
14 | NA17867 | Coriell gDNA | 1 | 1 | XXY | 1 | |
15 | NA22397 | Coriell gDNA | 1 | 1 | 5-Mb dup | 1 | |
16 | NA06918 | Coriell gDNA | 1 | 2 | 212-kb del 17-Mb del | 2 | |
17 | NA07945 | Coriell gDNA | 1 | 2 | 232-kb del 11-Mb del | 2 | |
18 | NA08331 | Coriell gDNA | 1 | 2 | 2-Mb del 12-Mb del | 2 | |
19 | NA09216 | Coriell gDNA | 1 | 2 | 110-kb del 17-Mb del | 2 | |
20 | NA50180 | Coriell gDNA | 1 | 3 | 1.5-Mb del 28-Mb del 431-kb dup | 3 | |
21 | NA04099 | Coriell gDNA | 3 | 1 | 131-kb del | 3 | |
22 | NA05115 | Coriell gDNA | 3 | 1 | 164-kb del | 3 | |
23 | NA09981 | Coriell gDNA | 3 | 1 | 295-kb dup | 3 | |
24 | NA10636 | Coriell gDNA | 3 | 1 | 19-Mb dup | 3 | |
25 | NA12606 | Coriell gDNA | 3 | 1 | 40-Mb dup | 3 | |
26 | Individual_1 | Blood | 3 | 1 | 60-kb del | 3 | |
27 | Individual_2 | Blood | 3 | 1 | 437-kb dup | 3 | |
28 | Individual_3 | Blood | 3 | 1 | 378-kb dup | 3 | |
29 | Individual_4 | Blood | 3 | 1 | 114-kb del | 3 | |
30 | Individual_5 | Blood | 3 | 1 | 124-kb dup | 3 | |
TOTAL | 50 | 1 | 35 | 55 |