A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584053



Internal ID16371462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:188319695..188380788hg38UCSC Ensembl
Innerchr2:189184422..189245515hg19UCSC Ensembl
Innerchr2:188892667..188953760hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3861094
hg1961094
hg1861094
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7232n54
Supporting Variantsnssv928421
Samples
Known GenesGULP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584053
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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