A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562938



Internal ID16350347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:99086330..99087256hg38UCSC Ensembl
Innerchr13:99738584..99739510hg19UCSC Ensembl
Innerchr13:98536585..98537511hg18UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38927
hg19927
hg18927
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3358n54
Supporting Variantsnssv818100
Samples
Known GenesDOCK9, DOCK9-AS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562938
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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