A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450415



Internal ID18620706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:34098944..34369764hg38UCSC Ensembl
Innerchr5:34099049..34369869hg19UCSC Ensembl
Innerchr5:34134806..34405626hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38270821
hg19270821
hg18270821
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428116
Supporting Variants
SamplesHGDP01086
Known GenesC1QTNF3-AMACR
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)nssv450415
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