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Article

Segmental duplications and copy-number variation in the human genome.

American journal of human genetics - 1 Jul 2005

Sharp Andrew J, Locke Devin P, McGrath Sean D, Cheng Ze, Bailey Jeffrey A, Vallente Rhea U, Pertz Lisa M, Clark Royden A, Schwartz Stuart, Segraves Rick, Oseroff Vanessa V, Albertson Donna G, Pinkel Daniel, Eichler Evan E

Abstract excerpt

The human genome contains numerous blocks of highly homologous duplicated sequence. This higher-order architecture provides a substrate for recombination and recurrent chromosomal rearrangement associated with genomic disease. However, an assessment of the role of segmental duplications in normal variation has not yet been made. On the basis of the duplication architecture of the human genome, we defined a set of...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Nucleic Acid Hybridization

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Share to Repetitive Sequences, Nucleic Acid

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Identifiers

PMID: 15918152
DOI: 10.1086/431652
PMCID: PMC1226196

Genes

CNP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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