A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581239



Internal ID16021962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:25673202..25674021hg38UCSC Ensembl
Innerchr2:25896071..25896890hg19UCSC Ensembl
Innerchr2:25749575..25750394hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38820
hg19820
hg18820
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6742n54
Supporting Variantsnssv904591
Samples
Known GenesDTNB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581239
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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