A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv982550



Internal ID15929820
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 StatusS
Merged Variantsnsv592656
Supporting Variants
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)nssv982550
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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