Table 1. Confirmed de novo CNVs at 1q41, 2q37.3, and 8q24.3.
Case | De novo CNV at | Genomic region duplicated hg 18 | First duplicated SNP (flanking non-duplicated SNP) | Last duplicated SNP (flanking non-duplicated SNP) | Minimum/maximum size kb | Affected genes (protein encoded) |
---|---|---|---|---|---|---|
1 | 1q41 | chr1: 215 945 774–216 077 064 | rs10863338 (rs17724824) | rs4846444 (rs17041601) | 132–169 | SPATA17 (spermatogenesis-associated protein 17) |
2 | 2q37.3 | chr2: 241 202 666–241 227 781 | rs2953147 (rs2953158) | rs4676406 (rs4676403) | 25–33 | GPR35 (G-protein coupled receptor 35), CAPN10 (Calpain-10) |
3 | 8q24.3 | chr8: 145 012 210–145 132 100 | rs6990098 (rs1138597) | rs11136345 (rs12545468) | 120–125 | EPPK1 (Epiplakin), PLEC-1 (Plectin-1), PARP10 (poly[ADP-ribose] polymerase 10) |