Global variation in copy number in the human genome.

doi:10.1038/nature05329

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Article

Global variation in copy number in the human genome.

Nature - 23 Nov 2006

Redon Richard, Ishikawa Shumpei, Fitch Karen R, Feuk Lars, Perry George H, Andrews T Daniel, Fiegler Heike, Shapero Michael H, Carson Andrew R, Chen Wenwei, Cho Eun Kyung, Dallaire Stephanie, Freeman Jennifer L, González Juan R, Gratacòs Mònica, Huang Jing, Kalaitzopoulos Dimitrios, Komura Daisuke, MacDonald Jeffrey R, Marshall Christian R, Mei Rui, Montgomery Lyndal, Nishimura Kunihiro, Okamura Kohji, Shen Fan, Somerville Martin J, Tchinda Joelle, Valsesia Armand, Woodwark Cara, Yang Fengtang, Zhang Junjun, Zerjal Tatiana, Zhang Jane, Armengol Lluis, Conrad Donald F, Estivill Xavier, Tyler-Smith Chris, Carter Nigel P, Aburatani Hiroyuki, Lee Charles, Jones Keith W, Scherer Stephen W, Hurles Matthew E

Abstract excerpt

Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be fully ascertained. We have constructed a first-generation CNV map of the human genome through the study of 270 individuals from four populations with ancestry in Europe, Africa or Asia (the HapMap collection). DNA from these individuals was screened for CNV using two complementary technologies: single-nucleotide...

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PMID: 17122850
DOI: 10.1038/nature05329
PMCID: PMC2669898

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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