A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428463



Internal ID18624913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:12536094..12747707hg38UCSC Ensembl
Innerchr5:12536206..12747819hg19UCSC Ensembl
Innerchr5:12589206..12800819hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38211614
hg19211614
hg18211614
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450334
SamplesNA18916
Known GenesCT49
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)nsv428463
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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