A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611457



Internal ID16398866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:66463284..66472853hg38UCSC Ensembl
Innerchr8:67375519..67385088hg19UCSC Ensembl
Innerchr8:67538073..67547642hg18UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg389570
hg199570
hg189570
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156850
SamplesHGDP01009
Known GenesADHFE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611457
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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