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Fig. 3 | BMC Genomics

Fig. 3

From: Visualizing and exploring patterns of large mutational events with SigProfilerMatrixGenerator

Fig. 3

Description of the structural variant classification schema. Structural variants (SVs) are categorized as tandem-duplications, deletions, inversions, or translocations. a Tandem duplication of a segment containing the A allele. A tandem duplication occurs when a segment is duplicated and inserted adjacent to the original chromosomal segment. b Deletion of the segment containing the A allele. A deletion occurs when there is a loss of genetic material from a chromosome. c An inversion of the segment containing the B allele. An inversion occurs when a segment breaks off and reattaches in a reverse orientation within the same chromosome. d A translocation of a chromosomal segment. A translocation event occurs when a piece of one chromosome breaks off and some (or all) fragments from that piece re-attach to either another chromosome or to a different locus of the same chromosome

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