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Article

Mutational and selective effects on copy-number variants in the human genome.

Nature genetics - 1 Jul 2007

Cooper Gregory M, Nickerson Deborah A, Eichler Evan E

Abstract excerpt

Comprehensive descriptions of large insertion/deletion or segmental duplication polymorphisms (SDs) in the human genome have recently been generated. These annotations, known collectively as structural or copy-number variants (CNVs), include thousands of discrete genomic regions and span hundreds of millions of nucleotides. Here we review the genomic distribution of CNVs, which is strongly correlated with gene,...

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PMID: 17597777
DOI: 10.1038/ng2054

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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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