A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16217



Internal ID15836082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67045..70326hg38UCSC Ensembl
Outerchr8:61752..72850hg38UCSC Ensembl
Innerchr8:17045..20326hg19UCSC Ensembl
Outerchr8:11752..22850hg19UCSC Ensembl
Innerchr8:7045..10326hg18UCSC Ensembl
Outerchr8:1752..12850hg18UCSC Ensembl
Innerchr8:7045..10326hg17UCSC Ensembl
Outerchr8:1752..12850hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3811099
hg1911099
hg1811099
hg1711099
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8252
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)nssv16217
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