A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428199



Internal ID18624649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:45956920..46368998hg38UCSC Ensembl
Innerchr8:46868542..47280620hg19UCSC Ensembl
Innerchr8:46987707..47399785hg18UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg38412079
hg19412079
hg18412079
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451510
SamplesHGDP01093
Known Genes
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)nsv428199
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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