A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450422



Internal ID18621284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:34173930..34335749hg38UCSC Ensembl
Innerchr5:34174035..34335854hg19UCSC Ensembl
Innerchr5:34209792..34371611hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38161820
hg19161820
hg18161820
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428116
Supporting Variants
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)nssv450422
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer