41. Resolving ambiguities in copy number variation representation

Representation of copy number variations (CNV) in biomedical databases and literature represent a variety of closely related concepts, some of which are not representable under all variant nomenclatures. One common example of this is representing the number of copies of a genetic locus in a genome, a concept that is not directly supported by the widely-used Human Genome Variation Society (HGVS) variant nomenclature. For example, HGVS expressions such as NC_000001.10:g. (?_143134063)_(143284670_?)dup are used to convey a systemic gain of a stretch of sequence, but this syntax technically represents a tandem duplication with inexact boundaries.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research