A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20597



Internal ID15489595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:90072044..90073698hg38UCSC Ensembl
Outerchr11:90071557..90074536hg38UCSC Ensembl
Innerchr11:89805212..89806866hg19UCSC Ensembl
Outerchr11:89804725..89807704hg19UCSC Ensembl
Innerchr11:89444860..89446514hg18UCSC Ensembl
Outerchr11:89444373..89447352hg18UCSC Ensembl
Innerchr11:89444860..89446514hg17UCSC Ensembl
Outerchr11:89444373..89447352hg17UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg382980
hg192980
hg182980
hg172980
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8859
Supporting Variants
SamplesNA18563
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)nssv20597
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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