A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453952



Internal ID18274184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17491941..18886703hg38UCSC Ensembl
Innerchr22:17970973..18874216hg19UCSC Ensembl
Innerchr22:16350973..17254216hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381394763
hg19903244
hg18903244
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428385
Supporting Variants
SamplesHGDP01088
Known GenesATP6V1E1, BCL2L13, BID, CECR2, FLJ41941, GGT3P, LINC00528, MICAL3, MIR3198-1, MIR648, PEX26, SLC25A18, 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)nssv453952
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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