A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562547



Internal ID16349956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:83572908..83618979hg38UCSC Ensembl
Innerchr13:84147043..84193114hg19UCSC Ensembl
Innerchr13:83045044..83091115hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3846072
hg1946072
hg1846072
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv816598
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562547
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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