Table 5.

Details of the validation of the CNVs identified in STRC

Genomic coordinates of the CNV from ES (hg19)	Exome call	Validation method	Result
chr15:43891026-43895609	Deletion	SNP array (n = 1), ddPCR (n = 2), long-range PCR followed by NGS (n = 1)	Heterozygous deletion of STRC
chr15:43891026-43940259	Deletion	SNP array (n = 2), ddPCR (n = 21)	Heterozygous deletion of CATSPER2 and STRC
chr15:43891026-43940259	Duplication	ddPCR (n = 6)	Duplication of CATSPER2 and STRC
chr15:43892733-43892880	Deletion	long-range PCR followed by NGS (n = 1)	Gene conversion involving exon 26 of STRC
chr15:43893595-43893749	Deletion	long-range PCR followed by NGS (n = 1)	Gene conversion involving exon 24 of STRC