Extended Data Fig. 3: Copy number variation analysis across different groups.

(a) Bar chart shows the number of large CNVs (> 50 kb) identified in individuals from each group, broken down by type: deletion (red) and duplication (blue). (b) Bar chart shows the cumulative size of CNVs identified in individuals from each group. The horizontal dashed line indicates the average cumulative CNV size across the entire cohort. (c) Histograms show the size distribution of unique CNV regions (> 50 kb) containing deletions (red) and duplications (blue). The vertical dashed lines indicate the average size for deletions and duplications, respectively. (d) Genome browser views show coverage tracks for 2 individuals from NCIG-P2 (purple) and 1 non-NCIG individual (orange) across chromosomes 11 and 2 of chm13-T2T. In the first panel, the non-NCIG individual has the longest deletion identified, which is indicated by the blue segment and visible in the coverage track for that individual, but missing in the other 2 NCIG-P2 individuals. In the second panel, the 2 NCIG-P2 individuals have the largest duplication identified, also indicated by the blue segment and visible in the respective coverage tracks, but missing in the non-NCIG individual. Centromeric repeats are labeled and represented as red segments.