A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12137



Internal ID15835970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:131765849..131974102hg38UCSC Ensembl
Outerchr4:131763271..131974568hg38UCSC Ensembl
Innerchr4:132687004..132895257hg19UCSC Ensembl
Outerchr4:132684426..132895723hg19UCSC Ensembl
Innerchr4:132906454..133114707hg18UCSC Ensembl
Outerchr4:132903876..133115173hg18UCSC Ensembl
Innerchr4:133044609..133252862hg17UCSC Ensembl
Outerchr4:133042031..133253328hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38211298
hg19211298
hg18211298
hg17211298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10568
Supporting Variants
SamplesNA18563
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)nssv12137
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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