A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3680261



Internal ID18631856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7439806..7540351hg38UCSC Ensembl
Innerchr8:7297328..7397873hg19UCSC Ensembl
Innerchr8:7284738..7385283hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38100546
hg19100546
hg18100546
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1031528
Supporting Variants
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, 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)nssv3680261
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