A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv813694



Internal ID16107650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:69824871..69832892hg38UCSC Ensembl
Innerchr13:70399003..70407024hg19UCSC Ensembl
Innerchr13:69297004..69305025hg18UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg388022
hg198022
hg188022
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv562210
Supporting Variants
Samples
Known GenesKLHL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv813694
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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