Table 1 Genomic positions of variants identified in the SNP array and CNV-seq processed proband sample. Genomics coordinates are reported for human genome build hg19
Karyotype | SNP array positions | CNV-seq window boundaries | Prediction | Inherited from | ||||
|---|---|---|---|---|---|---|---|---|
Start | Stop | Size (Mb) | Start | Stop | Size (Mb) | |||
11p duplication | N/A | N/A | N/A | 38,940,000 | 39,080,000 | 0.14 | Uncertain significance | Mother |
13q duplication | 47,596,020 | 48,636,586 | 1.04 | 47,740,000 | 48,640,000 | 0.9 | Uncertain significance | Father |
15q duplication | 20,161,372 | 32,370,069 | 12.2 | (1) 20,180,000 | (1) 30,340,000 | (1) 10.16 | Pathogenic | De novo |
(2) 30,340,000 | (2) 32,180,000 | (2) 1.84 | Pathogenic | De novo | ||||
16p duplication | N/A | N/A | N/A | 32,500,000 | 32,660,000 | 0.16 | benign | De novo |
18p duplication | 7,070,642 | 7,573,510 | 0.5 | 7,060,000 | 7,560,000 | 0.5 | benign | Father |