A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454007



Internal ID18275001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42371295..42698202hg38UCSC Ensembl
Innerchr22:42767301..43094208hg19UCSC Ensembl
Innerchr22:41097245..41424152hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38326908
hg19326908
hg18326908
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428391
Supporting Variants
SamplesNA19147
Known GenesA4GALT, ATP5L2, CYB5R3, NFAM1, POLDIP3, RNU12, RRP7A, RRP7B, SERHL, SERHL2
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)nssv454007
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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