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Mutational Signatures (v3.4 - October 2023)

Structural Variation (SV) Signatures

Structural variations (SVs) are large genomic changes typically exceeding 1kb in length, which impact the arrangement of the genome. Types of SVs include large deletions (removal of a genomic segment), tandem duplications (addition of a repeated genomic segment), inversions (flipping of a genomic segment), and translocations (breaking and rejoining of genomic segments at different chromosomal locations).

Deletions, inversions, and tandem duplications are further subdivided by size using the five size ranges: 1-10Kb, 10-100Kb, 100Kb-1Mb, 1Mb-10Mb, and events larger than 10Mb. SVs are also categorised as clustered or non-clustered depending on the distance between adjacent SVs, resulting in 32 SV types in total.

These signatures were derived from an analysis of 10,731 whole genome sequenced samples provided by Genomics England, which were organised into 16 distinct tissue groupings.