A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428462



Internal ID18624912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:11611391..11810271hg38UCSC Ensembl
Innerchr5:11611503..11810383hg19UCSC Ensembl
Innerchr5:11664503..11863383hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38198881
hg19198881
hg18198881
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450328, nssv450330, nssv450329
SamplesHGDP00476, HGDP00467, HGDP00449
Known GenesCTNND2
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)nsv428462
Frequency
Sample Size62
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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