A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3755060



Internal ID18706655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7872619hg38UCSC Ensembl
Innerchr8:7250368..7730141hg19UCSC Ensembl
Innerchr8:7237778..7767551hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38479774
hg19479774
hg18529774
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1016697
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)nssv3755060
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