A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428368



Internal ID18624818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:13331586..13518109hg38UCSC Ensembl
Innerchr2:13471711..13658234hg19UCSC Ensembl
Innerchr2:13389162..13575685hg18UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38186524
hg19186524
hg18186524
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453576
SamplesNA18916
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)nsv428368
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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