A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428385



Internal ID18278149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17491941..18886703hg38UCSC Ensembl
Innerchr22:17970973..18874216hg19UCSC Ensembl
Innerchr22:16350973..17254216hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381394763
hg19903244
hg18903244
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453961, nssv453954, nssv453962, nssv453963, nssv453957, nssv453952, nssv453951, nssv453959, nssv453950, nssv453949, nssv453958, nssv453955, nssv453960, nssv453956
SamplesHGDP01087, HGDP00463, HGDP01088, NA18498, HGDP00460, HGDP00473, HGDP00986, NA19181, NA19257, NA19147, HGDP01094, HGDP00472, HGDP01086, HGDP00449
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)nsv428385
Frequency
Sample Size62
Observed Gain6
Observed Loss8
Observed Complex0
Frequencyn/a


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