A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3664920



Internal ID18963201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12384994..12564499hg38UCSC Ensembl
Innerchr8:12242503..12422008hg19UCSC Ensembl
Innerchr8:12286874..12466379hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38179506
hg19179506
hg18179506
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1034588
Supporting Variants
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3664920
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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