A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428276



Internal ID18278040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30972532..31338170hg38UCSC Ensembl
Innerchr12:31125467..31491104hg19UCSC Ensembl
Innerchr12:31016734..31382371hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38365639
hg19365638
hg18365638
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452282, nssv452281, nssv452279, nssv452280
SamplesHGDP00450, HGDP00462, NA18916, NA19113
Known GenesDDX11, DDX11-AS1, FAM60A, FLJ13224, TSPAN11
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)nsv428276
Frequency
Sample Size62
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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