A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3755258



Internal ID18706853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7409831..7540351hg38UCSC Ensembl
Innerchr8:7267353..7397873hg19UCSC Ensembl
Innerchr8:7254763..7385283hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38130521
hg19130521
hg18130521
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1017018
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, PRR23D1, PRR23D2, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3755258
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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