A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428353



Internal ID18278117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:22509818..22885611hg38UCSC Ensembl
Innerchr18:20089781..20465574hg19UCSC Ensembl
Innerchr18:18343779..18719572hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38375794
hg19375794
hg18375794
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453581
SamplesNA19108
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)nsv428353
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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