Table 4. List of CNVs found by array-CGH considering their occurrence in controls and in patients with their description according to type, gene location (NO = no gene found within) and presence in the Database of Genomic Variants (DGV).
CNV code | CNV type | Region | Size (Kb) | Start position | End position | Coding sequences within the CNV* | DGV | Frequency in patients | Frequency in controls | |
Control-enriched CNVs | 12 | GAIN | Xp22.33 (PAR) | 17.30 | 1,693,897 | 1,711,194 | ASMT | Variation_83259 | 1 | 3 |
Patient-enriched CNVs | 15 | LOSS | Xp22.33 (PAR) | 1.40 | 1,896,197 | 1,897,608 | NO | Variation_104545 | 23 | 1 |
64 | LOSS | Xq27.3 | 3.92 | 143,436,347 | 143,440,268 | NO | Variation_115340 | 8 | 5 | |
69 | LOSS | Xq28 | 11.77 | 154,044,877 | 154,056,645 | NO | 7 | 3 | ||
Common CNVs | 16 | LOSS | Xp22.32 | 7.76 | 4,250,413 | 4,258,174 | NO | Variation_52995 | 2 | 1 |
35 | GAIN | Xp11.1 | 117.14 | 57,318,438 | 57,435,573 | FAAH2 | 1 | 1 | ||
49 | GAIN | Xq22.1 | 5.30 | 100,942,190 | 100,947,490 | NO | 2 | 2 | ||
51 | GAIN | Xq22.2 | 34.69 | 103,152,319 | 103,187,013 | H2BFWT H2BFM | Variation_3254 | 5 | 4 | |
68 | GAIN | Xq28 | 105.66 | 148,686,631 | 148,792,286 | MAGEA8 | Variation_31571 | 2 | 2 |
CNV minimum size.