A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3680038



Internal ID18631633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7409831..8078321hg38UCSC Ensembl
Innerchr8:7267353..7935843hg19UCSC Ensembl
Innerchr8:7254763..7973253hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38668491
hg19668491
hg18718491
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1033164
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66E, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3680038
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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