Figure 1

Diagram of an insertion SV (ISV). Sequence inserts derived from the subject genome have a known average length, but appear to be shorter than average when their end-read pairs are aligned to a reference genome. This implies that segment , having length δ = |x₂ - x₁|, is inserted in the subject genome. Deletion SV (DSV) is the complement of this phenomenon and can be visualized by swapping the "subject" and "reference" labels in the diagram.