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Chunk #31 — Results — Putative functional variants

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A map of human genome variation from population-scale sequencing.
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In total, we found over 68,300 nonsynonymous SNPs, 34,161 of which were novel (Table 2). In an early analysis, 21,657 nonsynonymous SNPs were validated as polymorphic in 620 samples using a custom genotyping array (Table 2; Supplementary Information). The mean minor allele frequency in the array data was 2.2% for 4,573 novel variants, and 26.2% for previously discovered variants.