A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3753615



Internal ID18705210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7473768..8116089hg38UCSC Ensembl
Innerchr8:7331290..7973611hg19UCSC Ensembl
Innerchr8:7318700..8011021hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38642322
hg19642322
hg18692322
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1034784
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, FAM66E, FAM90A10P, FAM90A7P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3753615
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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