Fig. 2: Profiling of structural variants.

a Number of the structural variant events, insertions, and deletions called by Sniffles or Assemblytics for the different haplogroups. Variants are grouped into three categories depending on their length: from 10 up to 50 bp, from 50 up to 500 bp, and equal to or over 500 bp. b Overlap on the alternative calls between haplogroups. As expected by their evolutionary distance, haplogroups A0 and A1a show higher haplogroup-specific variants. Only variants with genotype calls for all haplogroups have been included (n = 726 variants). c Correlations between genotype calls using Sniffles (ONT-based) or graphtyper (Illumina-based) when calling the same set of structural variants. Phi coefficients range from 1 to −1, where 1 indicates complete association. Only correlation values that are statistically significant (p-value < 0.05) after Bonferroni multiple testing correction are shown. Source data are provided in Supplementary Data 8.