A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428397



Internal ID18624847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:67060147..67238530hg38UCSC Ensembl
Innerchr2:67287279..67465662hg19UCSC Ensembl
Innerchr2:67140783..67319166hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38178384
hg19178384
hg18178384
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453798
SamplesHGDP00449
Known GenesLOC644838
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)nsv428397
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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