A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3679694



Internal ID18977975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7397576..7785611hg38UCSC Ensembl
Innerchr8:7255098..7643133hg19UCSC Ensembl
Innerchr8:7242508..7680543hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38388036
hg19388036
hg18438036
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1018189
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A10P, FAM90A7P, 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)nssv3679694
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer