A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20284



Internal ID15828704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:122972502..122973324hg38UCSC Ensembl
Outerchr11:122970938..122974445hg38UCSC Ensembl
Innerchr11:122843210..122844032hg19UCSC Ensembl
Outerchr11:122841646..122845153hg19UCSC Ensembl
Innerchr11:122348420..122349242hg18UCSC Ensembl
Outerchr11:122346856..122350363hg18UCSC Ensembl
Innerchr11:122348420..122349242hg17UCSC Ensembl
Outerchr11:122346856..122350363hg17UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg383508
hg193508
hg183508
hg173508
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8876
Supporting Variants
SamplesNA10839
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)nssv20284
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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