A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18038



Internal ID15483731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12659250..12666531hg38UCSC Ensembl
Outerchr8:12658940..12668186hg38UCSC Ensembl
Innerchr8:12516759..12524040hg19UCSC Ensembl
Outerchr8:12516449..12525695hg19UCSC Ensembl
Innerchr8:12561130..12568411hg18UCSC Ensembl
Outerchr8:12560820..12570066hg18UCSC Ensembl
Innerchr8:12561130..12568411hg17UCSC Ensembl
Outerchr8:12560820..12570066hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg389247
hg199247
hg189247
hg179247
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA12155
Known GenesLOC729732
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)nssv18038
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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