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 |