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Article

Detection, breakpoint identification and detailed characterisation of a CNV at the FRA16D site using SNP assays.

Cytogenetic and genome research - 1 Jan 2008

Winchester L, Newbury D F, Monaco A P, Ragoussis J

Abstract excerpt

Copy Number Variants (CNV) and other submicroscopic structural changes are now recognised to be widespread across the human genome. We show that SNP data generated for association study can be utilised for the identification of deletion CNVs. During analysis of data for an SNP association study for Specific Language Impairment (SLI) a deletion was identified. SLI adversely affects the language development of...

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Identifiers

PMID: 19287171
DOI: 10.1159/000184724

Genes

WWOX

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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