From: Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia
Patient | CNV Location | Size/Type | Coordinates | # times in DGV | # times in Decipher | Genes in CNV |
---|---|---|---|---|---|---|
6 | 16p11.2 | 746 kb Del | 29,432,212–30,177,916 | 6 (125) | 0 (10) | 39 |
Xq25 | 768 kb Del | 126,937,856–127,706,114 | 8 (17) | 0 (0) | 1 (ACTRT1) | |
7 | 16p13.3 | 243 kb Del | 6,774,500–7,017,793 | Multiple (131) | Multiple [25] | 1(RBFOX1)* |
8 | 13q14.11 | 116 kb Dup | 41,178,626–41,294,741 | 1 (12) | 0 (0) | 1 (FOXO1) |
9 | 1p31.1 | 263 kb Dup | 76,357,590–76,620,268 | 0 (19) | 0 (0) | 3 (ST6GALNAC3, MSH4, ASB17) |