A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12647



Internal ID15489482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:756882..765950hg38UCSC Ensembl
Outerchr5:755688..766709hg38UCSC Ensembl
Innerchr5:756997..766065hg19UCSC Ensembl
Outerchr5:755803..766824hg19UCSC Ensembl
Innerchr5:809997..819065hg18UCSC Ensembl
Outerchr5:808803..819824hg18UCSC Ensembl
Innerchr5:809997..819065hg17UCSC Ensembl
Outerchr5:808803..819824hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3811022
hg1911022
hg1811022
hg1711022
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA18563
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv12647
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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