A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18973



Internal ID15486933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:5141144..5143920hg38UCSC Ensembl
Outerchr8:5140177..5144481hg38UCSC Ensembl
Innerchr8:4998666..5001442hg19UCSC Ensembl
Outerchr8:4997699..5002003hg19UCSC Ensembl
Innerchr8:4986074..4988850hg18UCSC Ensembl
Outerchr8:4985107..4989411hg18UCSC Ensembl
Innerchr8:4986074..4988850hg17UCSC Ensembl
Outerchr8:4985107..4989411hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg384305
hg194305
hg184305
hg174305
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
SamplesNA18504
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)nssv18973
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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