A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053979



Internal ID18796510
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 StatusM
Merged Variants
Supporting Variantsnssv3529288
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)nsv1053979
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer