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 Indels and Structural variant tool are drawn in figures 22.45
Figure 22.45: A deletion with cross-mapping breakpoint evidence.
Figure 22.46: A deletion with selfmapping breakpoint evidence.
Figure 22.47: An insertion with close breakpoint evidence.
Figure 22.48: An insertion with cross-mapped breakpoints evidence.
Figure 22.49: An insertion with selfmapped breakpoint evidence.
Figure 22.50: An insertion with breakpoint mapping evidence corresponding to a 'Tandem duplication'.
Figure 22.51: The unaligned end mapping pattern of an inversion.
Figure 22.52: The unaligned end mapping pattern of a replacement.
Figure 22.53: The unaligned end mapping pattern of a translocation.