A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv911330



Internal ID15858600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:60756834..60871507hg38UCSC Ensembl
Innerchr2:60983969..61098642hg19UCSC Ensembl
Innerchr2:60837473..60952146hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38114674
hg19114674
hg18114674
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582116
Supporting Variants
Samples
Known GenesFLJ16341, PAPOLG
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv911330
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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