A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581482



Internal ID16022205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:38572678..38631527hg38UCSC Ensembl
Innerchr2:38799820..38858669hg19UCSC Ensembl
Innerchr2:38653324..38712173hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3858850
hg1958850
hg1858850
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6789n54
Supporting Variantsnssv906871
Samples
Known GenesHNRNPLL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581482
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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