A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19344



Internal ID15839920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:80269467..80270508hg38UCSC Ensembl
Outerchr11:80269099..80279380hg38UCSC Ensembl
Innerchr11:79980511..79981552hg19UCSC Ensembl
Outerchr11:79980143..79990424hg19UCSC Ensembl
Innerchr11:79658159..79659200hg18UCSC Ensembl
Outerchr11:79657791..79668072hg18UCSC Ensembl
Innerchr11:79658159..79659200hg17UCSC Ensembl
Outerchr11:79657791..79668072hg17UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3810282
hg1910282
hg1810282
hg1710282
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8842
Supporting Variants
SamplesNA18975
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)nssv19344
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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