Structural variation

<p>Genomic structural variation is the variation in structure of an organism's <a href="/facts/Chromosome/FRGf11FC">chromosome</a>, such as deletions, duplications, <a href="/facts/Copy-number_variation/g7GPKrsx">copy-number variants</a>, insertions, <a href="/facts/Chromosomal_inversion/7oM6D9eE">inversions</a> and <a href="/facts/Chromosomal_translocation/MKEwqpQw">translocations</a>. Originally, a structure variation affects a sequence length about 1kb to 3Mb, which is larger than <a href="/facts/SNPs/Qy5Y2wom">SNPs</a> and smaller than <a href="/facts/Chromosome_abnormality/6hL7p0cP">chromosome abnormality</a> (though the definitions have some overlap). However, the operational range of structural variants has widened to include events > 50bp. Some structural variants are associated with <a href="/facts/Genetic_diseases/hFqt2NLn">genetic diseases</a>, however most are not. Approximately 13% of the human genome is defined as structurally variant in the normal population, and there are at least 240 genes that exist as <a href="/facts/Homozygous/XzEJ5gPp">homozygous</a> deletion <a href="/facts/Polymorphism_(biology)/lf32kgfV">polymorphisms</a> in human populations, suggesting these genes are dispensable in humans. While humans carry a median of 3.6 Mbp in SNPs (compared to a reference genome), a median of 8.9 Mbp is affected by structural variation which thus causes most genetic differences between humans in terms of raw sequence data.
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Structural variation open-in-new

Structural variation