A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562346



Internal ID16349755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:75398710..75515948hg38UCSC Ensembl
Innerchr13:75972846..76090084hg19UCSC Ensembl
Innerchr13:74870847..74988085hg18UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg38117239
hg19117239
hg18117239
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv815764
Samples
Known GenesTBC1D4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562346
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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