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Article

Technical considerations for genotyping multi-allelic copy number variation (CNV), in regions of segmental duplication.

BMC genomics - 1 May 2014

Cantsilieris Stuart, Western Patrick S, Baird Paul N, White Stefan J

Abstract excerpt

BACKGROUND: Intrachromosomal segmental duplications provide the substrate for non-allelic homologous recombination, facilitating extensive copy number variation in the human genome. Many multi-copy gene families are embedded within genomic regions with high levels of sequence identity (>95%) and therefore pose considerable analytical challenges. In some cases, the complexity involved in analyzing such regions is...

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Identifiers

PMID: 24885186
DOI: 10.1186/1471-2164-15-329
PMCID: PMC4035060

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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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