Copy Number Variants

Copy Number Variants is a class of structural genomic variation characterized by deletions or duplications of DNA segments (typically ≥50 base pairs) that alter the copy number of specific genomic regions or genes relative to a reference genome, and in pediatric genetics constitutes a major source of both benign variation and pathogenic genomic imbalance underlying congenital and neurodevelopmental disorders.

4.8K

Publications

375.3K

Citations

35.5K

Authors

5.4K

Institutions

Publications per year

2017–2026

1.4K

Variants

Cnvs

Parents

Pediatric Genetics

Children

Autism Spectrum Disorder Copy Number VariantsCancer Predisposition Copy Number VariantsClinical Copy Number Variant ReportingCongenital Anomaly Copy Number VariantsCopy Number Variant Breakpoint MappingCopy Number Variant Dosage SensitivityCopy Number Variant FormationCopy Number Variant MechanismsCopy Number Variant PathogenicityCopy Number Variation Calling

Publications

4.8K

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

Daniel C. Koboldt, Qunyuan Zhang, David E. Larson et al. · Genome Research · 2012 · 5.3K citations · Full text

Medicine, Genetics, Oncology +17

Global variation in copy number in the human genome

Richard Redon, Shumpei Ishikawa, Karen Fitch et al. · Nature · 2006 · 4.4K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

The landscape of somatic copy-number alteration across human cancers

Rameen Beroukhim, Craig H. Mermel, Dale Porter et al. · Nature · 2010 · 4.1K citations · Full text

Medicine, Genetics, Molecular Genetics +14

Haplotype-based variant detection from short-read sequencing

Erik Garrison, Gábor Marth · arXiv (Cornell University) · 2012 · 4.1K citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Annemieke J.M.H. Verkerk, Maura Pieretti, James S. Sutcliffe et al. · Cell · 1991 · 3.5K citations

Life Sciences, Genetics, Molecular Genetics +12

1–5 of 4.8K

Authors

35.5K

SW
Stephen W. Scherer
Hospital for Sick Children, Canada
112 publications · 28.7K citations
59
h-index
EE
Evan E. Eichler
University of Washington, United States
76 publications · 17.6K citations
55
h-index
HH
Håkon Håkonarson
Children's Hospital of Philadelphia, United States
64 publications · 13.8K citations
40
h-index
MJ
Michael J. Owen
Cardiff University, United Kingdom
67 publications · 8.7K citations
40
h-index
CR
Christian R. Marshall
Hospital for Sick Children, Canada
62 publications · 14.7K citations
39
h-index

1–5 of 35.5K

Institutions

5.4K

1–8 of 5.4K

Venues

The American Journal of Human Genetics
AJHG · 114 publications · 19.2K citations
73
h-index
Nature Genetics
67 publications · 30.2K citations
61
h-index
Genome Research
GR · 82 publications · 20K citations
60
h-index
Human Molecular Genetics
92 publications · 8.6K citations
55
h-index
PLoS ONE
192 publications · 8.9K citations
54
h-index

1–5