A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3680379



Internal ID18631974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7465919..7541457hg38UCSC Ensembl
Innerchr8:7323441..7398979hg19UCSC Ensembl
Innerchr8:7310851..7386389hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3875539
hg1975539
hg1875539
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1030611
Supporting Variants
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, PRR23D1, PRR23D2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3680379
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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