A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704625



Internal ID15441277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19172470..19184771hg38UCSC Ensembl
Innerchr13:19746610..19758911hg19UCSC Ensembl
Innerchr13:18644610..18656911hg18UCSC Ensembl
Innerchr13:18644610..18656911hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3812302
hg1912302
hg1812302
hg1712302
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528089
Supporting Variants
Samples
Known GenesTUBA3C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704625
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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