A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20475



Internal ID15488144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:90071557..90076823hg38UCSC Ensembl
Outerchr11:90070473..90078132hg38UCSC Ensembl
Innerchr11:89804725..89809991hg19UCSC Ensembl
Outerchr11:89803641..89811300hg19UCSC Ensembl
Innerchr11:89444373..89449639hg18UCSC Ensembl
Outerchr11:89443289..89450948hg18UCSC Ensembl
Innerchr11:89444373..89449639hg17UCSC Ensembl
Outerchr11:89443289..89450948hg17UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg387660
hg197660
hg187660
hg177660
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8859
Supporting Variants
SamplesNA18537
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)nssv20475
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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