A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562211



Internal ID16349620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:69825214..69831328hg38UCSC Ensembl
Innerchr13:70399346..70405460hg19UCSC Ensembl
Innerchr13:69297347..69303461hg18UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg386115
hg196115
hg186115
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3234n54
Supporting Variantsnssv813695
Samples
Known GenesKLHL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562211
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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