Small-scale complex SVs in K562 resolved using ARC-SV. Examples of small-scale complex SVs resolved using ARC-SV (Arthur et al. 2018) from the K562 WGS data set. (A) Deletion of Block C and duplication of Block E between Blocks B and D on Chromosome 20 (135,111–136,565). This variant has been validated by PCR. (B) Deletion of Block B and inverted duplication of Block D between Blocks A and C on Chromosome 1 (81,660,347–81,661,554). (C) Duplication and inversion of Blocks B, C, and D between Blocks B and D on Chromosome 3 (158,795,874–158,795,955) overlapping IQCJ-SCHIP1. (D) Inversion of Block C flanked by deletions of Blocks C and D on Chromosome 5 (147,553,038–147,554,778) inside SPINK14 (coding for a serine peptidase inhibitor). (E) Deletion of Block G, duplications of blocks I, D, and E, and inverted duplication of Block B between Blocks F and H on Chromosome 10 (127,190,417–127,201,193).
