A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454015



Internal ID18619863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43421801..43468209hg38UCSC Ensembl
Innerchr22:43817807..43864089hg19UCSC Ensembl
Innerchr22:42147751..42194033hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3846409
hg1946283
hg1846283
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428392
Supporting Variants
SamplesHGDP00460
Known GenesMPPED1
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)nssv454015
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