A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13227



Internal ID15494933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68507752..68625085hg38UCSC Ensembl
Outerchr4:68507471..68625575hg38UCSC Ensembl
Innerchr4:69373470..69490803hg19UCSC Ensembl
Outerchr4:69373189..69491293hg19UCSC Ensembl
Innerchr4:69056065..69173398hg18UCSC Ensembl
Outerchr4:69055784..69173888hg18UCSC Ensembl
Innerchr4:69202236..69319569hg17UCSC Ensembl
Outerchr4:69201955..69320059hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38118105
hg19118105
hg18118105
hg17118105
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10516
Supporting Variants
SamplesNA19132
Known GenesUGT2B17
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)nssv13227
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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