A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454022



Internal ID18274041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50723181..50766634hg38UCSC Ensembl
Innerchr22:51161609..51205062hg19UCSC Ensembl
Innerchr22:49508475..49551928hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3843454
hg1943454
hg1843454
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428394
Supporting Variants
SamplesHGDP01087
Known GenesACR, RPL23AP82, SHANK3
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)nssv454022
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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