A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428275



Internal ID18278039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20789281..20964886hg38UCSC Ensembl
Innerchr12:20942215..21117820hg19UCSC Ensembl
Innerchr12:20833482..21009087hg18UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38175606
hg19175606
hg18175606
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452276, nssv452277
SamplesNA18498, NA19113
Known GenesSLCO1B3
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)nsv428275
Frequency
Sample Size62
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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