A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581743



Internal ID16022466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46272597..46310465hg38UCSC Ensembl
Innerchr2:46499736..46537604hg19UCSC Ensembl
Innerchr2:46353240..46391108hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3837869
hg1937869
hg1837869
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv908099
Samples
Known GenesEPAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581743
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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