Fig. 2: Structural variants identified through WGS.
From: Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
A RAB39B partial exon 1 deletion diagnosed through WGS. Simplified IGV (PMC3346182) screenshot showing ClinSV-detected deletion encompassing part of exon 1 and into the upstream untranslated region with supporting evidence. Tracks from top to bottom: sequencing read coverage, called structural variant, supporting discordant mapping read pairs, gnomAD variants with allele frequencies, gene models. There is no evidence of a similar deletion in gnomAD. Complex structural variant involving chromosome 1 and chromosome X in the region of MID1: (B) Simplified IGV (PMC3346182) screenshot showing intronic MID1 duplication in an affected male; (C) Illustration of complex structural variant connecting parts of chromosome X and chromosome 1. The evidence suggests that a part of the pseudoautosomal regions (PAR) is connected with the intronic MID1 duplication and a duplication on chromosome 1. The insertion point in the genome remains elusive, but is suspected to be on chromosome X due to evidence of X-linked inheritance in the family.
