A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592658



Internal ID16380067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:183819971..183825715hg38UCSC Ensembl
Innerchr3:183537759..183543503hg19UCSC Ensembl
Innerchr3:185020453..185026197hg18UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg385745
hg195745
hg185745
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8757n54
Supporting Variantsnssv982552
Samples
Known GenesMAP6D1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592658
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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