Large-Scale Copy Number Polymorphism in the Human Genome

Author:

Sebat Jonathan12345,Lakshmi B.12345,Troge Jennifer12345,Alexander Joan12345,Young Janet12345,Lundin Pär12345,Månér Susanne12345,Massa Hillary12345,Walker Megan12345,Chi Maoyen12345,Navin Nicholas12345,Lucito Robert12345,Healy John12345,Hicks James12345,Ye Kenny12345,Reiner Andrew12345,Gilliam T. Conrad12345,Trask Barbara12345,Patterson Nick12345,Zetterberg Anders12345,Wigler Michael12345

Affiliation:

1. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA.

2. Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.

3. Karolinska Institute, Stockholm SE-17176, Sweden.

4. Department of Applied Mathematics and Statistics, Stony Brook University, Stony Brook, NY 11794, USA.

5. Columbia Genome Center, Columbia University, New York, NY 10032, USA.

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.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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