A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8317



Internal ID15846229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:21526669..21530350hg38UCSC Ensembl
Outerchr8:21384180..21387861hg19UCSC Ensembl
Outerchr8:21428460..21432141hg18UCSC Ensembl
Outerchr8:21428460..21432141hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg383682
hg193682
hg183682
hg173682
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17919
SamplesNA12740
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)nsv8317
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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