A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453967



Internal ID18273503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21328921..21451449hg38UCSC Ensembl
Innerchr22:21683210..21805738hg19UCSC Ensembl
Innerchr22:20013210..20135738hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38122529
hg19122529
hg18122529
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428386
Supporting Variants
SamplesHGDP00471
Known GenesHIC2, RIMBP3B, RIMBP3C
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)nssv453967
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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