A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452281



Internal ID18273083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31045018..31338170hg38UCSC Ensembl
Innerchr12:31197952..31491104hg19UCSC Ensembl
Innerchr12:31089219..31382371hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38293153
hg19293153
hg18293153
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428276
Supporting Variants
SamplesHGDP00450
Known GenesDDX11, DDX11-AS1, FAM60A, FLJ13224
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)nssv452281
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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