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Article

Detection of copy number variation using SNP genotyping.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2011

Cooper Gregory M, Mefford Heather C

Abstract excerpt

Genetic diversity among human genomes comes in many forms, including single nucleotide polymorphisms (SNPs) and small insertions and deletions on the order of one to several basepairs. More recently, large, >1 kb copy number changes have been identified as an important source of normal genomic variation as well as disease-causing variation. The ability to perform genome-wide discovery of large copy number...

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PMID: 21822880
DOI: 10.1007/978-1-61779-201-4_18

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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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