Large-Scale Copy Number Polymorphism in the Human Genome
Cold Spring Harbor Laboratory · Karolinska Institutet · +5 more institutions
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,…
Citation impact
- FWCI
- 109.71
- Percentile
- 100%
- References
- 25
Authors
21- JSJonathan Sebat
Cold Spring Harbor Laboratory, Karolinska Institutet, Fred Hutch Cancer Center, New York Genome Center, Stony Brook University, Columbia University
- BLB. Lakshmi
Cold Spring Harbor Laboratory, Karolinska Institutet, Fred Hutch Cancer Center, New York Genome Center, Stony Brook University, Columbia University
- JTJennifer Troge
Cold Spring Harbor Laboratory, Karolinska Institutet, Fred Hutch Cancer Center, New York Genome Center, Stony Brook University, Columbia University
- JAJoan Alexander
Cold Spring Harbor Laboratory, Karolinska Institutet, Fred Hutch Cancer Center, New York Genome Center, Stony Brook University, Columbia University
- JMJanet M. Young
Cold Spring Harbor Laboratory, Karolinska Institutet, Fred Hutch Cancer Center, New York Genome Center, Stony Brook University, Columbia University
Topics & keywords
- Copy-number variation
- Biology
- Genetics
- Gene
- Human genome
- Genome
- Genetic variation
- Gene duplication