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. 2013 Apr 3;21(12):1377–1382. doi: 10.1038/ejhg.2013.58

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)