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Article

Genetic architecture of reciprocal CNVs.

Current opinion in genetics & development - 1 Jun 2013

Golzio Christelle, Katsanis Nicholas

Abstract excerpt

Copy number variants (CNVs) represent a frequent type of lesion in human genetic disorders that typically affects numerous genes simultaneously. This has raised the challenge of understanding which genes within a CNV drive clinical phenotypes. Although CNVs can arise by multiple mechanisms, a subset is driven by local genomic architecture permissive to recombination events that can lead to both deletions and...

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Identifiers

PMID: 23747035
DOI: 10.1016/j.gde.2013.04.013
PMCID: PMC3740179

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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