Figure 2: AK1 SV distribution and Asian-specific variants.
a, Distribution of insertions (red/orange) and deletions (cyan/dark blue) between AK1 and GRCh37, compared to SVs identified from previous studies. In total. 47% and 76% of the insertions and deletions, respectively, were previously unreported. b, Allele frequency of 45 Asian-specific insertions (≥0.3 allele frequency difference; ≤0.5 non-Asian allele frequency). The coverage for the genic insertions was calculated from 38 whole-genome high-coverage samples by dividing the read depth by the median genome coverage across individuals with the same ancestry. c, In ANO2, the Asian-specific insertion occurs within an East Asian (EAS) linkage disequilibrium (LD) block, sharing a similar population allele frequency with the adjacent AK1 SNPs. AFR, African; EUR, European; SAS, South Asian.
