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. 2019 Jul 25;105(2):373–383. doi: 10.1016/j.ajhg.2019.07.001

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Burden and Distribution of Copy-Number Variation in UK Biobank

(A) Log-scale histogram of CNV lengths. Mean length (dashed line) is 226.5 kb.

(B) Cumulative density of CNV allele count (AC), displayed in log-log axes. Average AC is 5.5, but average frequency as experienced by the population (weighted by count, hence AC²) is ∼1.6%.

(C and D) Histogram of CNV counts (C) and log-scale base-pairs affected by CNV per individual (D). Sample-level burden is heavy-tailed, with the average individual carrying 4.2 variants (dashed line), affecting mean ∼207.6 kb of genomic sequence.

(E) Genome-wide density of CNV, defined as the number of unique CNVs overlapping 10 megabase (Mb) windows tiling each chromosome. Hotspots of structural variation are labeled by cytogenic band.