Fig. 1

17q21.31 H1/H2 haplotype and sub-haplotype structures. A Structure of 17q21.31 locus with GRCh38 coordinates. Inversion locus containing color coded region blocks (0–4) based on CNVs or CNPs defined by Boettger et al. (α,β,γ) [17] or Steinberg et al. [18], respectively. B Haplotypes and sub-haplotypes based on SNVs or CNV repeats for H1 and H2, with suggested hybrid nomenclature using Steinberg CNV-based nomenclature merged with Pittman SNV-based nomenclature separated by underscore. GRCh38 reference genome haplotypes are highlighted in a blue or red box for H1.,β1.γ2 and H2.α2.γ2, respectively. C Heatmap showing frequencies of the four major sub-haplotypes in 12 populations that are composed of data from HapMap, 1000 Genomes, HGDP, African Diversity Panel, and H2 Diversity Panel defined by Steinberg et al. [18], as specified in population code list