A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521495



Internal ID15448788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:71298943..71304796hg38UCSC Ensembl
Innerchr8:72211178..72217031hg19UCSC Ensembl
Innerchr8:72373732..72379585hg18UCSC Ensembl
Innerchr8:72373732..72379585hg17UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg385854
hg195854
hg185854
hg175854
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698109
Samples
Known GenesEYA1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521495
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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