A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12304



Internal ID15481742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68653886..68670928hg38UCSC Ensembl
Outerchr4:68652628..68687707hg38UCSC Ensembl
Innerchr4:69519604..69536646hg19UCSC Ensembl
Outerchr4:69518346..69553425hg19UCSC Ensembl
Innerchr4:69202199..69219241hg18UCSC Ensembl
Outerchr4:69200941..69236020hg18UCSC Ensembl
Innerchr4:69348370..69365412hg17UCSC Ensembl
Outerchr4:69347112..69382191hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3835080
hg1935080
hg1835080
hg1735080
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10516
Supporting Variants
SamplesNA10839
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)nssv12304
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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