Copy Number Polymorphism

Known as: Copy Number Polymorphisms, CNP, Copy Number Variation 
Refers to the genetic trait involving the number of copies of a particular gene present in the genome of an individual. Genetic variants, including… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1967-2017
020040060019672017

Papers overview

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Highly Cited
2011
Highly Cited
2011
Genomic structural variants (SVs) are abundant in humans, differing from other forms of variation in extent, origin and… (More)
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Highly Cited
2011
Highly Cited
2011
To understand the genetic heterogeneity underlying developmental delay, we compared copy number variants (CNVs) in 15,767… (More)
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Highly Cited
2010
Highly Cited
2010
Structural variations of DNA greater than 1 kilobase in size account for most bases that vary among human genomes, but are still… (More)
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Highly Cited
2010
Highly Cited
2010
Copy number variants affect both disease and normal phenotypic variation, but those lying within heavily duplicated, highly… (More)
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Highly Cited
2008
Highly Cited
2008
Accurate and complete measurement of single nucleotide (SNP) and copy number (CNV) variants, both common and rare, will be… (More)
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Highly Cited
2008
Highly Cited
2008
Dissecting the genetic basis of disease risk requires measuring all forms of genetic variation, including SNPs and copy number… (More)
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Highly Cited
2007
Highly Cited
2007
We tested the hypothesis that de novo copy number variation (CNV) is associated with autism spectrum disorders (ASDs). We… (More)
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Highly Cited
2006
Highly Cited
2006
Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be fully ascertained. We have constructed… (More)
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Highly Cited
2006
Highly Cited
2006
Identification of the genes underlying complex phenotypes and the definition of the evolutionary forces that have shaped… (More)
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Highly Cited
2004
Highly Cited
2004
The extent to which large duplications and deletions contribute to human genetic variation and diversity is unknown. Here, we… (More)
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