A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19843



Internal ID15833685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:85939688..85940687hg38UCSC Ensembl
Outerchr8:85939018..85942416hg38UCSC Ensembl
Innerchr8:86951917..86952916hg19UCSC Ensembl
Outerchr8:86951247..86954645hg19UCSC Ensembl
Innerchr8:87021033..87022032hg18UCSC Ensembl
Outerchr8:87020363..87023761hg18UCSC Ensembl
Innerchr8:87021033..87022032hg17UCSC Ensembl
Outerchr8:87020363..87023761hg17UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg383399
hg193399
hg183399
hg173399
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8363
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)nssv19843
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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