A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3664767



Internal ID18963048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12382314..12581227hg38UCSC Ensembl
Innerchr8:12239823..12438736hg19UCSC Ensembl
Innerchr8:12284194..12483107hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38198914
hg19198914
hg18198914
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1022706
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)nssv3664767
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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