A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11925



Internal ID15834977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69160676..69374026hg38UCSC Ensembl
Outerchr4:69158715..69386939hg38UCSC Ensembl
Innerchr4:70026394..70239744hg19UCSC Ensembl
Outerchr4:70024433..70252657hg19UCSC Ensembl
Innerchr4:70060983..70274333hg18UCSC Ensembl
Outerchr4:70059022..70287246hg18UCSC Ensembl
Innerchr4:70207154..70420504hg17UCSC Ensembl
Outerchr4:70205193..70433417hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38228225
hg19228225
hg18228225
hg17228225
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10524
Supporting Variants
SamplesNA18537
Known GenesUGT2B11, UGT2B28
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)nssv11925
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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