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Chunk #3 — Data set overview

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A global reference for human genetic variation.
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88 million variant sites (Supplementary Table 3). The project has now contributed or validated 80 million of the 100 million variants in the public dbSNP catalogue (version 141 includes 40 million SNPs and indels newly contributed by this analysis). These novel variants especially enhance our catalogue of genetic variation within South Asian (which account for 24% of novel variants) and African populations (28% of novel variants).