Figure 3.

Read signature when the alignments are visualized with IGV and representation of the split reads for inversions in tmC20 (FX20235). (A,C) IGV screenshots of the regions surrounding breakpoints. (BD) Schematic representation of split read signatures. (A,B) The small inversion (4.7–8.2 Mb) shows a “normal” inversion signature: The reads in blue and blue-green are marked by IGV as the pair mates (forward and reverse read) have the same orientation instead of opposite orientation. (C,D) The larger inversion (0.1–8.2 Mb) shows a DEL-DUP read signature: Reads in green are marked as such by IGV because the reverse read aligned before the forward. Reads in red are marked as such by IGV as the inner distance between pair mates (forward and reverse reads) is longer than normal inner distance (usually 300–350 bp).

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