A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17589



Internal ID15484889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:5640094..5640820hg38UCSC Ensembl
Outerchr8:5639091..5641598hg38UCSC Ensembl
Innerchr8:5497616..5498342hg19UCSC Ensembl
Outerchr8:5496613..5499120hg19UCSC Ensembl
Innerchr8:5485024..5485750hg18UCSC Ensembl
Outerchr8:5484021..5486528hg18UCSC Ensembl
Innerchr8:5485024..5485750hg17UCSC Ensembl
Outerchr8:5484021..5486528hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382508
hg192508
hg182508
hg172508
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
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)nssv17589
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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