A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521356



Internal ID15101963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:124296814..124392522hg38UCSC Ensembl
Innerchr8:125309055..125404763hg19UCSC Ensembl
Innerchr8:125378236..125473944hg18UCSC Ensembl
Innerchr8:125378236..125473944hg17UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3895709
hg1995709
hg1895709
hg1795709
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697967
Samples
Known GenesTMEM65
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521356
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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