Figure 5.

The definition of structural variations (SVs) by Sniffles. The figure is adapted from the article of Sniffles³² with focus on the relationship between the reference genome sequence and the sample genome sequence with each SV³². Sniffles is able to detect 8 types of SVs, such as deletions, duplications, insertions, inversion, translocation, nested variation (inversion + deletion and duplication + inversion), and U-Turns (INVDUP). The red regions indicate regions where an SV occurs. The red points stand for the breakpoint of deletions.