A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11745



Internal ID15487952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:40752877..40839477hg38UCSC Ensembl
Outerchr4:40747595..40935088hg38UCSC Ensembl
Innerchr4:40754894..40841494hg19UCSC Ensembl
Outerchr4:40749612..40937105hg19UCSC Ensembl
Innerchr4:40449651..40536251hg18UCSC Ensembl
Outerchr4:40444369..40631862hg18UCSC Ensembl
Innerchr4:40595822..40682422hg17UCSC Ensembl
Outerchr4:40590540..40778033hg17UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38187494
hg19187494
hg18187494
hg17187494
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10486
Supporting Variants
SamplesNA18537
Known GenesAPBB2, NSUN7
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)nssv11745
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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