A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453951



Internal ID18274102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17491941..18780583hg38UCSC Ensembl
Innerchr22:17970973..18768096hg19UCSC Ensembl
Innerchr22:16350973..17148096hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381288643
hg19797124
hg18797124
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428385
Supporting Variants
SamplesHGDP01087
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)nssv453951
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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