Concepedia

Copy Number Variant Polymorphism

A "Copy Number Variant Polymorphism" is a type of structural genetic variation characterized by the stable inheritance of differing numbers of specific DNA segments across individuals within a population, where the variant exists in multiple forms at appreciable frequency due to recurrent duplication or deletion events.

68

Publications

5.2K

Citations

466

Authors

207

Institutions

Publications per year

2017–2026

4

Variants

Cnp

Parents

Publications

68

Genotype, haplotype and copy-number variation in worldwide human populations

Mattias Jakobsson, Sonja W. Scholz, Paul Scheet et al. · Nature · 2008 · 911 citations · Full text

, , +14

Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans

Timothy J. Aitman, Rong Dong, Timothy J. Vyse et al. · Nature · 2006 · 678 citations

, , +14

Linkage Disequilibrium and Heritability of Copy-Number Polymorphisms within Duplicated Regions of the Human Genome

Devin P. Locke, Andrew J. Sharp, Steven A. McCarroll et al. · The American Journal of Human Genetics · 2006 · 326 citations · Full text

, , +17

Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer

Serena Nik‐Zainal, David C. Wedge, Ludmil B. Alexandrov et al. · Nature Genetics · 2014 · 290 citations · Full text

, , +16

Human defensin gene copy number polymorphisms: Comprehensive analysis of independent variation in α- and β-defensin regions at 8p22–p23

Rose Linzmeier, Tomas Ganz · Genomics · 2005 · 191 citations

, , +14

1–5 of 68

Authors

466

  1. EE
    Evan E. Eichler

    University of Washington, United States

    4 publications · 628 citations

    4

    h-index

  2. DR
    Daniel R. Schrider

    University of North Carolina at Chapel Hill, United States

    2 publications · 171 citations

    2

    h-index

  3. LB
    Laurakay Bruhn

    Agilent Technologies (United States), United States

    2 publications · 247 citations

    2

    h-index

  4. LX
    Lingyang Xu

    Chinese Academy of Agricultural Sciences, China

    2 publications · 183 citations

    2

    h-index

  5. AT
    Anya Tsalenko

    Agilent Technologies (United States), United States

    2 publications · 247 citations

    2

    h-index

1–5 of 466

Institutions

207

  1. University of Washington

    Seattle, United States

    6 h-index

    29 publications

    4K citations

  2. Howard Hughes Medical Institute

    Chevy Chase, United States

    4 h-index

    6 publications

    1.3K citations

  3. National Institutes of Health

    Bethesda, United States

    4 h-index

    28 publications

    13.2K citations

  4. Chinese Academy of Sciences

    Beijing, China

    3 h-index

    12 publications

    368 citations

  5. Center for Human Genetics

    Bar Harbor, United States

    3 h-index

    4 publications

    700 citations

  6. University of California, Davis

    Davis, United States

    3 h-index

    7 publications

    400 citations

  7. University of Chicago

    Chicago, United States

    2 h-index

    2 publications

    405 citations

  8. Agricultural Research Service

    Washington, United States

    2 h-index

    11 publications

    1K citations

1–8 of 207

Venues

  1. Genomics

    5 publications · 423 citations

    5

    h-index

  2. The American Journal of Human Genetics

    AJHG · 4 publications · 565 citations

    4

    h-index

  3. European Journal of Human Genetics

    EJHG · 4 publications · 139 citations

    4

    h-index

  4. Human Genetics

    3 publications · 65 citations

    3

    h-index

  5. PLoS ONE

    3 publications · 214 citations

    3

    h-index

1–5