A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562219



Internal ID16349628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:69916906..69976897hg38UCSC Ensembl
Innerchr13:70491038..70551029hg19UCSC Ensembl
Innerchr13:69389039..69449030hg18UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3859992
hg1959992
hg1859992
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv813732
Samples
Known GenesKLHL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562219
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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