A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584012



Internal ID16371421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:185349028..185610863hg38UCSC Ensembl
Innerchr2:186213755..186475590hg19UCSC Ensembl
Innerchr2:185922000..186183835hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38261836
hg19261836
hg18261836
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151335
SamplesHGDP00336
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584012
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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