Theoretically expected structural variant signatures
Different types of structural variants will leave different 'signatures' in terms of the mapping patterns of the unaligned ends. The 'structural variant signatures' of the set of structural variants that are considered by the Indel and Structural variant tool are drawn in Figures 21.70
Figure 21.70: A deletion with cross-mapping breakpoint evidence.
Figure 21.71: A deletion with selfmapping breakpoint evidence.
Figure 21.72: An insertion with close breakpoint evidence.
Figure 21.73: An insertion with cross-mapped breakpoints evidence.
Figure 21.74: An insertion with selfmapped breakpoint evidence.
Figure 21.75: An insertion with breakpoint mapping evidence corresponding to a 'Tandem duplication'.
Figure 21.76: The unaligned end mapping pattern of an inversion.
Figure 21.77: The unaligned end mapping pattern of a replacement.
Figure 21.78: The unaligned end mapping pattern of a translocation.