A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523483



Internal ID15104090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:55676869..56030580hg38UCSC Ensembl
Innerchr8:56589428..56943139hg19UCSC Ensembl
Innerchr8:56751982..57105693hg18UCSC Ensembl
Innerchr8:56751982..57105693hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38353712
hg19353712
hg18353712
hg17353712
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv459n21
Supporting Variantsnssv699249
Samples
Known GenesLYN, TGS1, TMEM68
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523483
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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