A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453992



Internal ID18275068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25153850..25435228hg38UCSC Ensembl
Innerchr22:25549817..25831195hg19UCSC Ensembl
Innerchr22:23879817..24161195hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38281379
hg19281379
hg18281379
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428388
Supporting Variants
SamplesNA19181
Known GenesCRYBB2, CRYBB3, IGLL3P, KIAA1671, LRP5L
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)nssv453992
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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