A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581305



Internal ID16022028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:33000193..33002120hg38UCSC Ensembl
Innerchr2:33225260..33227187hg19UCSC Ensembl
Innerchr2:33078764..33080691hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg381928
hg191928
hg181928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6754n54
Supporting Variantsnssv904887
Samples
Known GenesLTBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581305
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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