A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv810367



Internal ID16104323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:49546299..49616110hg38UCSC Ensembl
Innerchr13:50120435..50190246hg19UCSC Ensembl
Innerchr13:49018436..49088247hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3869812
hg1969812
hg1869812
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv561616
Supporting Variants
Samples
Known GenesRCBTB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv810367
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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