FIG. 3.

Breakpoint position of the tandem triplication in NCRM1. (A) Read coverage of 30 kb surrounding the breakpoint junction 31,813,288 bp (chromosome 20q11.21) of the hg38 reference genome. The mean read depth before and after the breakpoint is shown (red line and green line, respectively). (B) Schematic depicting the reference genome and the NCRM1 tandem triplication. The distal breakpoint lies between the junction of B-C, and the proximal breakpoint is located on the boundary of the A-B segments. The genes flanking the breakpoint, as determined by qPCR, are depicted. The position of the AluSz6 identified from the Dfam database is represented above the reference sequence schematic. The exact nucleotide position of the proximal and distal breakpoints is written in red below the schematic of the tandem triplication. (C) Reference sequence spanning the distal breakpoint (B—top, green), the proximal breakpoint (B—bottom, blue), and the combined amplification breakpoint junction (B/B fusion—middle). The region of microhomology that flanks each of the breakpoints is highlighted (red). Color images are available online.