A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20254



Internal ID15828708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:107371331..107372035hg38UCSC Ensembl
Outerchr11:107370836..107378894hg38UCSC Ensembl
Innerchr11:107242057..107242761hg19UCSC Ensembl
Outerchr11:107241562..107249620hg19UCSC Ensembl
Innerchr11:106747267..106747971hg18UCSC Ensembl
Outerchr11:106746772..106754830hg18UCSC Ensembl
Innerchr11:106747267..106747971hg17UCSC Ensembl
Outerchr11:106746772..106754830hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg388059
hg198059
hg188059
hg178059
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8872
Supporting Variants
SamplesNA10839
Known GenesCWF19L2
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)nssv20254
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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