A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3753681



Internal ID18705276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7540351..7894609hg38UCSC Ensembl
Innerchr8:7397873..7752131hg19UCSC Ensembl
Innerchr8:7385283..7789541hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38354259
hg19354259
hg18404259
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1017697
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, 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)nssv3753681
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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