An integrated map of structural variation in 2,504 human genomes from the 1000 Genomes Project was published by Nature today.

In the study, the authors analyzed structural variants from 2,504 human genomes in 26 human populations who were sequenced by next-generation sequencing. They identified numerous gene-intersecting structural variants exhibiting population stratification and described naturally occurring homozygous gene knockouts that suggest the dispensability of a variety of human genes. Importantly, they uncovered appreciable levels of structural variant complexity at different scales, including genic loci subject to clusters of repeated rearrangement and complex structural variants with multiple breakpoints likely to have formed through individual mutational events. This catalogue will enhance future studies into structural variant demography, functional impact and disease association

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