A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453949



Internal ID18275060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17491941..17627594hg38UCSC Ensembl
Innerchr22:17970973..18110360hg19UCSC Ensembl
Innerchr22:16350973..16490360hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38135654
hg19139388
hg18139388
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428385
Supporting Variants
SamplesNA19181
Known GenesATP6V1E1, CECR2, SLC25A18
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)nssv453949
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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