A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21490



Internal ID15485278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:63790..128338hg38UCSC Ensembl
Outerchr19:63437..128338hg38UCSC Ensembl
Innerchr19:63790..128338hg19UCSC Ensembl
Outerchr19:63437..128338hg19UCSC Ensembl
Innerchr19:14790..79338hg18UCSC Ensembl
Outerchr19:14437..79338hg18UCSC Ensembl
Innerchr19:14790..79338hg17UCSC Ensembl
Outerchr19:14437..79338hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3864902
hg1964902
hg1864902
hg1764902
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9651
Supporting Variants
SamplesNA12802
Known GenesFAM138A, FAM138F, OR4F17, WASH5P
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)nssv21490
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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