A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428453



Internal ID18624903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:146414801..146535963hg38UCSC Ensembl
Innerchr4:147335953..147457115hg19UCSC Ensembl
Innerchr4:147555403..147676565hg18UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg38121163
hg19121163
hg18121163
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450177
SamplesHGDP01093
Known GenesSLC10A7
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)nsv428453
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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