structural variation

Genomic structural variation includes insertions, deletions, duplications, inversions, or chromosomal translocations longer than 50 bp. These variants can occur in coding or noncoding DNA and they can be inherited or arise sporadically in the germline or somatic cells. Some of these variants may be benign, with or without phenotypic manifestations whereas others result in disease, for example, 22q11.2 Deletion Syndrome.