A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18652



Internal ID15838727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:130477793..130477860hg38UCSC Ensembl
Outerchr11:130477293..130479855hg38UCSC Ensembl
Innerchr11:130347688..130347755hg19UCSC Ensembl
Outerchr11:130347188..130349750hg19UCSC Ensembl
Innerchr11:129852898..129852965hg18UCSC Ensembl
Outerchr11:129852398..129854960hg18UCSC Ensembl
Innerchr11:129852898..129852965hg17UCSC Ensembl
Outerchr11:129852398..129854960hg17UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg382563
hg192563
hg182563
hg172563
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8878
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)nssv18652
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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