A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3689479



Internal ID18641074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:66464185..66495887hg38UCSC Ensembl
Innerchr8:67376420..67408122hg19UCSC Ensembl
Innerchr8:67538974..67570676hg18UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg3831703
hg1931703
hg1831703
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1026137
Supporting Variants
Samples
Known GenesADHFE1, C8orf46
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3689479
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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