Table 1.
Large CNVs from the literature | Exome array probe coverage | GWAS | Exome array | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Ref. | CNV | Location (Mb) | Kbp | Probes | %length | Kbp per probe | Total CNVs | Total CNVs | True discovery | False discovery |
(2, 16, 21) | DEL 1q21.1-q21.2 | chr1:145.8-147.8 | 1, 945 | 108 | 47% | 18.01 | 8 | 8 | 8 | 0 |
(2) | DEL 3q29 | chr3:195.7-197.3 | 1, 630 | 253 | 91% | 6.44 | 4 | 4 | 4 | 0 |
(2, 16) | DEL 15q13.2-q13.3 | chr15:30.9-32.5 | 1, 600 | 161 | 97% | 18.63 | 5 | 5 | 5 | 0 |
(2, 22) | DUP 16p11.2 | chr16:29.5-30.3 | 460 | 163 | 77% | 3.68 | 11 | 10 | 10 | 0 |
(2, 16) | DEL 22q11.2 | chr22:18.7-21.8 | 3, 150 | 498 | 92% | 6.33 | 8 | 8 | 8 | 0 |
Note: A total of 9 loci were examined. Four loci are not included in Table 1:17q12, and 22q12.2 (no CNV was detected from either GWAS or exome arrays (100% agreement));2p16.3 and 7q36.3 (insufficient exome array coverage).