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Article

De novo rates and selection of large copy number variation.

Genome research - 1 Nov 2010

Itsara Andy, Wu Hao, Smith Joshua D, Nickerson Deborah A, Romieu Isabelle, London Stephanie J, Eichler Evan E

Abstract excerpt

While copy number variation (CNV) is an active area of research, de novo mutation rates within human populations are not well characterized. By focusing on large (>100 kbp) events, we estimate the rate of de novo CNV formation in humans by analyzing 4394 transmissions from human pedigrees with and without neurocognitive disease. We show that a significant limitation in directly measuring genome-wide CNV mutation...

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Identifiers

PMID: 20841430
DOI: 10.1101/gr.107680.110
PMCID: PMC2963811

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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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