A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428278



Internal ID18624728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37462893..37759627hg38UCSC Ensembl
Innerchr12:37856695..38153429hg19UCSC Ensembl
Innerchr12:36142962..36439696hg18UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg38296735
hg19296735
hg18296735
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452284
SamplesNA19113
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)nsv428278
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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