A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581491



Internal ID16022214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:38733349..38744603hg38UCSC Ensembl
Innerchr2:38960491..38971745hg19UCSC Ensembl
Innerchr2:38813995..38825249hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3811255
hg1911255
hg1811255
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6791n54
Supporting Variantsnssv906883
Samples
Known GenesGALM, SRSF7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581491
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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