A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562222



Internal ID16349631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:70137080..70172012hg38UCSC Ensembl
Innerchr13:70711212..70746144hg19UCSC Ensembl
Innerchr13:69609213..69644145hg18UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3834933
hg1934933
hg1834933
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv813734
Samples
Known GenesATXN8OS
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562222
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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