A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23182



Internal ID15833981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:104855168..104855537hg38UCSC Ensembl
Outerchr11:104854418..104856115hg38UCSC Ensembl
Innerchr11:104725895..104726264hg19UCSC Ensembl
Outerchr11:104725145..104726842hg19UCSC Ensembl
Innerchr11:104231105..104231474hg18UCSC Ensembl
Outerchr11:104230355..104232052hg18UCSC Ensembl
Innerchr11:104231105..104231474hg17UCSC Ensembl
Outerchr11:104230355..104232052hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg381698
hg191698
hg181698
hg171698
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8869
Supporting Variants
SamplesNA18517
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)nssv23182
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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