Fig. 3
From: First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy – a case report
Integrative Genomics Viewer (IGV) screenshot of the genomic region containing the structural variant identified in the affected proband. From top to bottom the read coverage track, the alignment track (reads colored by insert size and pair orientation and grouped by pair orientation) and the gene track are shown. Colored reads represent discordant reads with unexpected insert size and/or pair orientation when aligned to the reference genome indicating the structural variant. Blue read pairs/lines represent read pairs with right-right pair orientation, teal reads represent read pairs with left-left pair orientation and red read pairs/lines represent read pairs with aberrant insert size. Split reads with soft-clipped bases span the breakpoints of the structural variant