A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3529288



Internal ID18480883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:70079770..70208426hg38UCSC Ensembl
Innerchr13:70653902..70782558hg19UCSC Ensembl
Innerchr13:69551903..69680559hg18UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38128657
hg19128657
hg18128657
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1053979
Supporting Variants
Samples
Known GenesATXN8OS, KLHL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3529288
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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