Title

The complexity of genomic structural variation in neurodevelopmental disorders.

Document Type

Article

Publication Date

3-1-2014

Journal

Biological psychiatry

Volume

75

Issue

5

First Page

344

Last Page

345

URL with Digital Object Identifier

10.1016/j.biopsych.2013.12.004

Abstract

Interest in—and understanding of the importance of—de novo structural variation in the human genome has increased alongside the accessibility of the technologies capable of identifying it. Copy number variation (CNV) is a catch-all term for sections of the genome ranging from 1 kb to many megabases, which vary in cardinality between individual genomes. Although CNVs are now a particularly well-studied form of structural variation, understanding of the impact of such variants on phenotype is still nascent, especially when compared with understudying of the phenotypic effects of some classes of single nucleotide polymorphisms.

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