A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428416



Internal ID18278180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:37864474..38062733hg38UCSC Ensembl
Innerchr3:37905965..38104224hg19UCSC Ensembl
Innerchr3:37880969..38079228hg18UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38198260
hg19198260
hg18198260
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454234
SamplesHGDP00473
Known GenesCTDSPL, DLEC1, MIR26A1, PLCD1, VILL
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)nsv428416
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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