A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13491



Internal ID15838103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:131830301..131835447hg38UCSC Ensembl
Outerchr4:131829950..131836306hg38UCSC Ensembl
Innerchr4:132751456..132756602hg19UCSC Ensembl
Outerchr4:132751105..132757461hg19UCSC Ensembl
Innerchr4:132970906..132976052hg18UCSC Ensembl
Outerchr4:132970555..132976911hg18UCSC Ensembl
Innerchr4:133109061..133114207hg17UCSC Ensembl
Outerchr4:133108710..133115066hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg386357
hg196357
hg186357
hg176357
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10568
Supporting Variants
SamplesNA18860
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)nssv13491
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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