A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19730



Internal ID15490938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:11854201..11854730hg38UCSC Ensembl
Outerchr11:11853289..11855203hg38UCSC Ensembl
Innerchr11:11875748..11876277hg19UCSC Ensembl
Outerchr11:11874836..11876750hg19UCSC Ensembl
Innerchr11:11832324..11832853hg18UCSC Ensembl
Outerchr11:11831412..11833326hg18UCSC Ensembl
Innerchr11:11832324..11832853hg17UCSC Ensembl
Outerchr11:11831412..11833326hg17UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg381915
hg191915
hg181915
hg171915
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8792
Supporting Variants
SamplesNA18853
Known GenesUSP47
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)nssv19730
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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