A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453963



Internal ID18273993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18069029..18886703hg38UCSC Ensembl
Innerchr22:18551795..18874216hg19UCSC Ensembl
Innerchr22:16931795..17254216hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38817675
hg19322422
hg18322422
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428385
Supporting Variants
SamplesHGDP01086
Known GenesGGT3P, PEX26, TUBA8, USP18
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)nssv453963
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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