A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3681739



Internal ID18980020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:11894289..12004288hg38UCSC Ensembl
Innerchr8:11751798..11861797hg19UCSC Ensembl
Innerchr8:11789207..11899206hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38110000
hg19110000
hg18110000
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1016332
Supporting Variants
Samples
Known GenesDEFB134, DEFB135, DEFB136
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3681739
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