A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14250



Internal ID15497184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68625575..68669218hg38UCSC Ensembl
Outerchr4:68625085..68670371hg38UCSC Ensembl
Innerchr4:69491293..69534936hg19UCSC Ensembl
Outerchr4:69490803..69536089hg19UCSC Ensembl
Innerchr4:69173888..69217531hg18UCSC Ensembl
Outerchr4:69173398..69218684hg18UCSC Ensembl
Innerchr4:69320059..69363702hg17UCSC Ensembl
Outerchr4:69319569..69364855hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3845287
hg1945287
hg1845287
hg1745287
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10516
Supporting Variants
SamplesNA19221
Known GenesUGT2B15
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)nssv14250
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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