A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428259



Internal ID18278023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:61049513..61356164hg38UCSC Ensembl
Innerchr11:60816985..61123636hg19UCSC Ensembl
Innerchr11:60573561..60880212hg18UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38306652
hg19306652
hg18306652
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452106, nssv452096, nssv452094, nssv452099, nssv452112, nssv452114, nssv452102, nssv452088, nssv452105, nssv452116, nssv452093, nssv452092, nssv452107, nssv452115, nssv452109, nssv452104, nssv452103, nssv452113, nssv452100, nssv452098, nssv452095, nssv452101, nssv452111, nssv452117, nssv452110
SamplesHGDP00450, HGDP00463, HGDP00984, NA19257, NA19108, NA19147, HGDP00476, HGDP00462, HGDP01093, HGDP01087, HGDP01094, NA19096, NA18916, NA19181, NA19189, NA18498, HGDP00986, HGDP01088, HGDP01086, NA19225, HGDP00478, NA19113, HGDP00460, HGDP00473, HGDP00449
Known GenesCD5, CYB561A3, DAK, DDB1, PGA3, PGA4, PGA5, VPS37C, VWCE
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)nsv428259
Frequency
Sample Size62
Observed Gain24
Observed Loss1
Observed Complex0
Frequencyn/a


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