Table 2 Size and position of the CNVs: validation of chromosomal positions predicted by NIPS using chromosomal microarray analysis
NIPS | Array-CGH mother | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Family ID | Del/Dup | Start | Stop | Size (kb) | Exon | Effect | Start | Stop | Size (kb) | Exon | Effect |
1 | Del | 31,786,996 | 31,835,697 | 48.701 | 51 | Out-of-frame | 31,780,126 | 31,821,260 | 41.134 | 51 | Out-of-frame |
2 | Dup | 31,683,494 | 32,202,063 | 518.569 | 45–53 | In-frame | 31,605,940 | 32,118,239 | 512.299 | 45–53 | In-frame |
3 | Del | 32,580,346 | 32,681,449 | 101.103 | 10–16 | In-frame | 32,582,584 | 32,676,287 | 93.703 | 10–16 | In-frame |
4 | Del | 32,489,765 | 32,598,764 | 108.999 | 14–22 | Out-of-frame | 32,500,113 | 32,592,155 | 92.042 | 14–21 | Out-of-frame |
5 | Del | 31,750,628 | 32,008,715 | 258.087 | 45–51 | In-frame | 31,754,837 | 32,006,298 | 251.461 | 45–51 | In-frame |
6 | Del | 31,856,163 | 31,889,973 | 33.810 | — | — | 31,854,529 | 31,877,889 | 23.36 | 49 | In-frame |
7 | Del | 31,636,676 | 31,844,031 | 207.355 | 50–55 | In-frame | 31,642,684 | 31,838,230 | 195.546 | 50–55 | In-frame |
8 | Del | 31,855,215 | 31,935,595 | 80.380 | 48 | In-frame | 31,854,854 | 31,935,133 | 80.279 | 48–49 | In-frame |
9 | Del | 31,694,976 | 31,786,958 | 91.982 | 52–53 | In-frame | 31,696,408 | 31,776,368 | 79.96 | 52–53 | In-frame |
10 | Dup | 32,465,085 | 32,673,646 | 208.561 | 10–27 | In-frame | 32,465,982 | 32,664,559 | 198.577 | 10–27 | In-frame |
11 | Dup | 32,462,001 | 32,671,622 | 209.621 | 10–27 | In-frame | 32,465,982 | 32,664,559 | 198.577 | 10–27 | In-frame |
12 | Dup | 32,462,635 | 32,654,437 | 191.802 | 12–27 | In-frame | 32,465,982 | 32,664,559 | 198.577 | 10–27 | In-frame |
13 | Del | 31,602,998 | 31,695,378 | 92.380 | 54–55 | In-frame | 31,610,838 | 31,694,483 | 83.645 | 54–55 | In-frame |
14 | Dup | 31,323,743 | 31,815,934 | 492.191 | 51–62 | Out-of-frame | 31,308,362 | 31,805,802 | 497.44 | 51–62 | Out-of-frame |
15 | Del | 31,235,477 | 31,798,048 | 562.571 | 51–64 | In-frame | 31,240,957 | 31,792,296 | 551.339 | 51–64 | In-frame |
16 | Del | 31,480,299 | 31,639,279 | 158.980 | 56–59 | In-frame | 31,482,871 | 31,635,046 | 152.175 | 56–59 | In-frame |