A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3680947



Internal ID18632542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7872528..7941317hg38UCSC Ensembl
Innerchr8:7730050..7798839hg19UCSC Ensembl
Innerchr8:7767460..7836249hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3868790
hg1968790
hg1868790
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1021425
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB4A, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3680947
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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