A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452596



Internal ID18273973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22996437..23226874hg38UCSC Ensembl
Innerchr15:22646194..22876631hg19UCSC Ensembl
Innerchr15:20197558..20428072hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38230438
hg19230438
hg18230515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428296
Supporting Variants
SamplesHGDP00986
Known GenesGOLGA6L1, GOLGA8DP, MIR4509-1, MIR4509-2, MIR4509-3, TUBGCP5
MethodBAC aCGH
AnalysisCopy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry_et_al_2008b
Pubmed ID18775914
Accession Number(s)nssv452596
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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