A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175988



Internal ID15853425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:70066513..70131876hg38UCSC Ensembl
Innerchr13:70640645..70706008hg19UCSC Ensembl
Innerchr13:69538646..69604009hg18UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3865364
hg1965364
hg1865364
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv562220
Supporting Variants
Samples1780854197_A
Known GenesATXN8OS, KLHL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175988
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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