A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13298



Internal ID15830439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69260092..69278202hg38UCSC Ensembl
Outerchr4:69259631..69278690hg38UCSC Ensembl
Innerchr4:70125810..70143920hg19UCSC Ensembl
Outerchr4:70125349..70144408hg19UCSC Ensembl
Innerchr4:70160399..70178509hg18UCSC Ensembl
Outerchr4:70159938..70178997hg18UCSC Ensembl
Innerchr4:70306570..70324680hg17UCSC Ensembl
Outerchr4:70306109..70325168hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3819060
hg1919060
hg1819060
hg1719060
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10524
Supporting Variants
SamplesNA12155
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)nssv13298
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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