A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262



Internal ID15486110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:757923..765950hg38UCSC Ensembl
Outerchr5:756882..766709hg38UCSC Ensembl
Innerchr5:758038..766065hg19UCSC Ensembl
Outerchr5:756997..766824hg19UCSC Ensembl
Innerchr5:811038..819065hg18UCSC Ensembl
Outerchr5:809997..819824hg18UCSC Ensembl
Innerchr5:811038..819065hg17UCSC Ensembl
Outerchr5:809997..819824hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg389828
hg199828
hg189828
hg179828
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA18502
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)nssv14262
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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