A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3679057



Internal ID18630652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7873159hg38UCSC Ensembl
Innerchr8:7250368..7730681hg19UCSC Ensembl
Innerchr8:7237778..7768091hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38480314
hg19480314
hg18530314
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1029716
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3679057
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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