A de novo, 4 Mb paracentric inversion in proband 1, affecting ZBTB20. (A,B) Visualization of a subset of proband and parent reads in IGV at the 5′ (A, Chr 3:110,477,108–110,477,357) and 3′ (B, Chr 3:114,639,120–114,639,284) breakpoints (black arrowheads) indicate a de novo event. Reads in A show the SV is present on the proband's paternal allele. (C) Schematic of the proband's inversion. Section B–C is inverted, and junctions 1 and 2 (jct1, jct2) are displayed. The inversion disrupts ZBTB20, with a promoter (P) and exons 1–6 of NM_001348800.3 (yellow boxes) remaining at the distal end of the chromosome near jct2/D and exons 7–12 of NM_001348800.3 (green boxes) moving upstream to the breakpoint at the more proximal end of the chromosome (near jct1/A). Sequence level resolution of the inversion is also shown. (D) Alignment of the proband's assembled paternal contig versus the reference genome supports the inversion.
