A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3682684



Internal ID18980965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374760..12562444hg38UCSC Ensembl
Innerchr8:12232269..12419953hg19UCSC Ensembl
Innerchr8:12276640..12464324hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38187685
hg19187685
hg18187685
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1015315
Supporting Variants
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3682684
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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