biostudies-literatureLong XShenzhen Science, Technology and Innovation CommissionInnovation and Technology Commission - Hong KongInnovation and Technology Commission - Hong Kong (HK)19https://www.ebi.ac.uk/biostudies/studies/S-EPMC7976700biostudies-literatureUnknown15(1)<h4>Background</h4>Genetic variants, underlining phenotypic diversity, are known to distribute unevenly in the human genome. A comprehensive understanding of the distributions of different genetic variants is important for insights into genetic functions and disorders.<h4>Methods</h4>Herein, a sliding-window scan of regional densities of eight kinds of germline genetic variants, including single-nucleotide-polymorphisms (SNPs) and four size-classes of copy-number-variations (CNVs) in the human genome has been performed.<h4>Results</h4>The study has identified 44,379 hotspots with high genetic-variant densities, and 1135 hotspot clusters comprising more than one type of hotspots, accounting for 3.1% and 0.2% of the genome respectively. The hotspots and clusters are found to co-localize withHuman genomicsGenetic-variant hotspots and hotspot clusters in the human genome facilitating adaptation while increasing instability.PMC7976700JCYJ20170818113656988ITS113/15FPLong XXue HfalseGenetic-variant hotspots and hotspot clusters in the human genome facilitating adaptation while increasing instability.<h4>Background</h4>Genetic variants, underlining phenotypic diversity, are known to distribute unevenly in the human genome. A comprehensive understanding of the distributions of different genetic variants is important for insights into genetic functions and disorders.<h4>Methods</h4>Herein, a sliding-window scan of regional densities of eight kinds of germline genetic variants, including single-nucleotide-polymorphisms (SNPs) and four size-classes of copy-number-variations (CNVs) in the human genome has been performed.<h4>Results</h4>The study has identified 44,379 hotspots with high genetic-variant densities, and 1135 hotspot clusters comprising more than one type of hotspots, accounting for 3.1% and 0.2% of the genome respectively. The hotspots and clusters are found to co-localize with2021-01-01T00:00:00Z2021 Mar2025-04-21T18:05:48.892Z2025-04-05T17:06:49.297ZS-EPMC79767003374106510.1186/s40246-021-00318-3