A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581233



Internal ID16021956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:25673076..25673781hg38UCSC Ensembl
Innerchr2:25895945..25896650hg19UCSC Ensembl
Innerchr2:25749449..25750154hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38706
hg19706
hg18706
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6742n54
Supporting Variantsnssv904582, nssv904580, nssv904581
Samples
Known GenesDTNB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581233
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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