A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18622



Internal ID15838765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:114597303..114641050hg38UCSC Ensembl
Outerchr11:114596838..114641948hg38UCSC Ensembl
Innerchr11:114468025..114511772hg19UCSC Ensembl
Outerchr11:114467560..114512670hg19UCSC Ensembl
Innerchr11:113973235..114016982hg18UCSC Ensembl
Outerchr11:113972770..114017880hg18UCSC Ensembl
Innerchr11:113973235..114016982hg17UCSC Ensembl
Outerchr11:113972770..114017880hg17UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg3845111
hg1945111
hg1845111
hg1745111
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8873
Supporting Variants
SamplesNA18942
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)nssv18622
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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