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Chunk #12 — Functional impact of SVs

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An integrated map of structural variation in 2,504 human genomes.
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these depletions were, however, more attenuated (Fig. 2b, Extended Data Fig. 7). Additional assessment of the site frequency spectrum showed that, as deletion sizes increase, these SVs become rarer (P < 2.2 × 10−16; linear model, F-test), evidence of purifying selection against events more likely intersecting functional elements. Duplications, by comparison, did not exhibit such trend, consistent with reduced selective constraints (Supplementary Note).