A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21390



Internal ID15843751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67634551..67641338hg38UCSC Ensembl
Outerchr8:67633829..67642999hg38UCSC Ensembl
Innerchr8:68546786..68553573hg19UCSC Ensembl
Outerchr8:68546064..68555234hg19UCSC Ensembl
Innerchr8:68709340..68716127hg18UCSC Ensembl
Outerchr8:68708618..68717788hg18UCSC Ensembl
Innerchr8:68709340..68716127hg17UCSC Ensembl
Outerchr8:68708618..68717788hg17UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg389171
hg199171
hg189171
hg179171
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8359
Supporting Variants
SamplesNA19221
Known GenesCPA6
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)nssv21390
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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