Large-Scale Copy Number Polymorphism in the Human Genome

Jonathan Sebat(Cold Spring Harbor Laboratory), B. Lakshmi(Cold Spring Harbor Laboratory), Jennifer Troge(Cold Spring Harbor Laboratory), Joan Alexander(Cold Spring Harbor Laboratory), Janet M. Young(Cold Spring Harbor Laboratory), Pär Lundin(Cold Spring Harbor Laboratory), Susanne Månér(Cold Spring Harbor Laboratory), Hillary F. Massa(Cold Spring Harbor Laboratory), Megan Walker(Cold Spring Harbor Laboratory), Maoyen Chi(Cold Spring Harbor Laboratory), Nicholas E. Navin(Cold Spring Harbor Laboratory), Robert Lucito(Cold Spring Harbor Laboratory), John Healy(Cold Spring Harbor Laboratory), James Hicks(Cold Spring Harbor Laboratory), Kenny Ye(Cold Spring Harbor Laboratory), Andrew H. Reiner(Cold Spring Harbor Laboratory), T. Conrad Gilliam(Cold Spring Harbor Laboratory), Barbara J. Trask(Cold Spring Harbor Laboratory), Nick Patterson(Broad Institute), Anders Zetterberg(Cold Spring Harbor Laboratory), Michael Wigler(Cold Spring Harbor Laboratory)
Science
July 22, 2004
10.1126/science.1098918
Cited by 2,587

Abstract

The extent to which large duplications and deletions contribute to human genetic variation and diversity is unknown. Here, we show that large-scale copy number polymorphisms (CNPs) (about 100 kilobases and greater) contribute substantially to genomic variation between normal humans. Representational oligonucleotide microarray analysis of 20 individuals revealed a total of 221 copy number differences representing 76 unique CNPs. On average, individuals differed by 11 CNPs, and the average length of a CNP interval was 465 kilobases. We observed copy number variation of 70 different genes within CNP intervals, including genes involved in neurological function, regulation of cell growth, regulation of metabolism, and several genes known to be associated with disease.

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