A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592656



Internal ID16033379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:183737365..183998816hg38UCSC Ensembl
Innerchr3:183455153..183716604hg19UCSC Ensembl
Innerchr3:184937847..185199298hg18UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38261452
hg19261452
hg18261452
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv982550
Samples
Known GenesABCC5, MAP6D1, PARL, YEATS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592656
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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