Skip to main content
. Author manuscript; available in PMC: 2014 Jul 23.
Published in final edited form as: Nat Rev Genet. 2011 Mar 1;12(5):363–376. doi: 10.1038/nrg2958

Figure 1. Classes of structural variation.

Figure 1

Traditionally, structural variation refers to genomic alterations that are larger than 1 kb in length, but advances in discovery techniques have led to the detection of smaller events. Currently, >50 bp is used as an operational demarcation between indels and copy number variants (CNVs). The schematic depicts deletions, novel sequence insertions, mobile-element insertions, tandem and interspersed segmental duplications, inversions and translocations in a test genome (lower line) when compared with the reference genome.