A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522647



Internal ID15103254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17979580..18314502hg38UCSC Ensembl
Innerchr8:17837089..18172011hg19UCSC Ensembl
Innerchr8:17881369..18216291hg18UCSC Ensembl
Innerchr8:17881369..18216291hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38334923
hg19334923
hg18334923
hg17334923
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv706047
Samples
Known GenesASAH1, NAT1, PCM1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522647
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer