Extended Data Fig. 7: Rare and complex structural variants revealed by Swave.
From: Population-level structural variant characterization using pangenome graphs
a, Pangenome graph structure of snarl ‘>s21910 > s21914’. A rare CSV allele introduced a novel traversal path not observed among the reported alleles. b, IGV snapshot of snarl ‘>s21910 > s21914’, illustrating co-occurrence of two distinct SSVs and one CSV. The rare SSV (67 kb deletion) extended the common 32 bp deletion, where the rare CSV (a duplication flanked by a deletion) added a 58 kb duplication at the right breakpoint of the frequent 32 kb simple deletion. c, Pangenome graph of snarl ‘>s10752 > s10754’, showing a novel CSV locus, structurally distinct from previously reported variants. d, Illustration of a rare scarred inversion that partially disrupts the coding structure of VIPR2, a gene associated with neuropsychiatric disorder.
