A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12238



Internal ID15842825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68626728..68668940hg38UCSC Ensembl
Outerchr4:68626403..68670371hg38UCSC Ensembl
Innerchr4:69492446..69534658hg19UCSC Ensembl
Outerchr4:69492121..69536089hg19UCSC Ensembl
Innerchr4:69175041..69217253hg18UCSC Ensembl
Outerchr4:69174716..69218684hg18UCSC Ensembl
Innerchr4:69321212..69363424hg17UCSC Ensembl
Outerchr4:69320887..69364855hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3843969
hg1943969
hg1843969
hg1743969
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10516
Supporting Variants
SamplesNA19144
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)nssv12238
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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