A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022117



Internal ID19111335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:96386..281272hg38UCSC Ensembl
Innerchr8:46386..231272hg19UCSC Ensembl
Innerchr8:36386..221272hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38184887
hg19184887
hg18184887
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6788n100
Supporting Variantsnssv3674896
Samples
Known GenesOR4F21, RPL23AP53, ZNF596
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022117
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