A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17218



Internal ID15495883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:5379436..5381636hg38UCSC Ensembl
Outerchr8:5378268..5382279hg38UCSC Ensembl
Innerchr8:5236958..5239158hg19UCSC Ensembl
Outerchr8:5235790..5239801hg19UCSC Ensembl
Innerchr8:5224366..5226566hg18UCSC Ensembl
Outerchr8:5223198..5227209hg18UCSC Ensembl
Innerchr8:5224366..5226566hg17UCSC Ensembl
Outerchr8:5223198..5227209hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg384012
hg194012
hg184012
hg174012
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
SamplesNA19144
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)nssv17218
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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