A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428391



Internal ID18278155
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 StatusM
Merged Variants
Supporting Variantsnssv454006, nssv454010, nssv454007, nssv454005
SamplesNA19108, NA19147, NA18498, HGDP00473
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)nsv428391
Frequency
Sample Size62
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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