A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3680377



Internal ID18631972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7465919..7534748hg38UCSC Ensembl
Innerchr8:7323441..7392270hg19UCSC Ensembl
Innerchr8:7310851..7379680hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3868830
hg1968830
hg1868830
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1027016
Supporting Variants
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3680377
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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