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, 21.71, 21.72, 21.73, 21.74, 21.75, 21.76, 21.77 and 21.78.

Image deletion-crossmapped
Figure 21.70: A deletion with cross-mapping breakpoint evidence.

Image deletion-selfmapped
Figure 21.71: A deletion with selfmapping breakpoint evidence.

Image insertion-closebreakpoint
Figure 21.72: An insertion with close breakpoint evidence.

Image insertion-crossmapped
Figure 21.73: An insertion with cross-mapped breakpoints evidence.

Image insertion-selfmapped
Figure 21.74: An insertion with selfmapped breakpoint evidence.

Image insertion-tandem
Figure 21.75: An insertion with breakpoint mapping evidence corresponding to a 'Tandem duplication'.

Image inversion-crossmapped
Figure 21.76: The unaligned end mapping pattern of an inversion.

Image replacement
Figure 21.77: The unaligned end mapping pattern of a replacement.

Image translocation
Figure 21.78: The unaligned end mapping pattern of a translocation.