A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051815



Internal ID18794346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:69996822..70161932hg38UCSC Ensembl
Innerchr13:70570954..70736064hg19UCSC Ensembl
Innerchr13:69468955..69634065hg18UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38165111
hg19165111
hg18165111
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3529287
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)nsv1051815
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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