A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3682479



Internal ID18980760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374760..12454091hg38UCSC Ensembl
Innerchr8:12232269..12311600hg19UCSC Ensembl
Innerchr8:12276640..12355971hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3879332
hg1979332
hg1879332
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1027671
Supporting Variants
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3682479
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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