A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3679728



Internal ID18631323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7409831..7535423hg38UCSC Ensembl
Innerchr8:7267353..7392945hg19UCSC Ensembl
Innerchr8:7254763..7380355hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38125593
hg19125593
hg18125593
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1026299
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3679728
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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