Fig. 3: Prevalence of distinct SV classes in our SAGA-based data resource. | Nature

Fig. 3: Prevalence of distinct SV classes in our SAGA-based data resource.

From: Structural variation in 1,019 diverse humans based on long-read sequencing

Fig. 3

a, VNTRs (here shown as identified with the SAGA framework), duplications and insertions, as classified by SVAN. The SV class is denoted by label and ideogram, and the number of resolved class members is given for insertions (INS; insertion relative to the reference) and deletions (DEL; deletion relative to reference), in addition to size distribution and percentage of low- and high-frequency alleles. Repeat units for VNTRs and internal VNTR sequence for SVA insertions are depicted using green boxes. TSDs flanking retrotransposition insertion events and LTRs flanking HERVK are represented as yellow boxes. Numbers for interspersed and complex duplications are shown in Supplementary Table 17. Alu, L1 and SVA refer to canonical retrotransposition events. b, Inversion classes identified (twin priming events excluded from this display). For each class, the reference structure is contrasted with the alternative allele, the number of resolved inversions is shown and the inversion size distribution is shown (in bp).

Back to article page