A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611491



Internal ID16398900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:71301055..71305412hg38UCSC Ensembl
Innerchr8:72213290..72217647hg19UCSC Ensembl
Innerchr8:72375844..72380201hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg384358
hg194358
hg184358
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1115778
Samples
Known GenesEYA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611491
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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