Here we review methods for the identification of DNA structural variation by NGS, with particular emphasis on methods suited for targeted sequencing likely to be used in the clinical laboratory. This review will focus on three major types of structural variation: translocations, CNV, and insertions/deletions. While numerous software tools are available for NGS analysis, currently no single tool is capable of identifying the full range of DNA variation, and we will review some of the most widely used, publicly available software packages.
