Large-Scale Copy Number Polymorphism in the Human Genome

  title={Large-Scale Copy Number Polymorphism in the Human Genome},
  author={Jonathan Sebat and B. Lakshmi and Jennifer Troge and Joan Alexander and Janet M. Young and P{\"a}r Lundin and Susanne M{\aa}n{\'e}r and Hillary F. Massa and Megan Walker and Maoyen Chi and Nicholas E. Navin and Robert Lucito and John Healy and James Hicks and Kenny Q. Ye and Andrew Reiner and T. Conrad Gilliam and Barbara J. Trask and Nick J. Patterson and Anders Zetterberg and Michael Wigler},
  pages={525 - 528}
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… 

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Copy-number variation: the end of the human genome?

  • P. Dear
  • Biology
    Trends in biotechnology
  • 2009

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S segmental duplications are the source of the majority of full-length copy number polymorphic genes, most of the variant genes are organized as tandem duplications, and a significant fraction of these genes will represent paralogs with levels of sequence diversity beyond thresholds of allelic variation.

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Different methods, experimental strategies and technologies that are currently available to study copy number variation and other structural variants in the human genome are discussed.

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Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation.

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Genomic DNA insertions and deletions occur frequently between humans and nonhuman primates.

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