A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592948



Internal ID16380357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:193418790..193424987hg38UCSC Ensembl
Innerchr3:193136579..193142776hg19UCSC Ensembl
Innerchr3:194619273..194625470hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg386198
hg196198
hg186198
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8818n54
Supporting Variantsnssv985727
Samples
Known GenesATP13A4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592948
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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