A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581167



Internal ID16368576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:20591365..20628086hg38UCSC Ensembl
Innerchr2:20791125..20827846hg19UCSC Ensembl
Innerchr2:20654606..20691327hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3836722
hg1936722
hg1836722
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv904428
Samples
Known GenesHS1BP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581167
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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