A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3664685



Internal ID18962966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12382314..12500660hg38UCSC Ensembl
Innerchr8:12239823..12358169hg19UCSC Ensembl
Innerchr8:12284194..12402540hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38118347
hg19118347
hg18118347
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1021519
Supporting Variants
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3664685
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