A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3760042



Internal ID19058323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12382314..12505127hg38UCSC Ensembl
Innerchr8:12239823..12362636hg19UCSC Ensembl
Innerchr8:12284194..12407007hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38122814
hg19122814
hg18122814
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1020860
Supporting Variants
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3760042
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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