A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10486



Internal ID15498763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:40747595..40935088hg38UCSC Ensembl
Outerchr4:40749612..40937105hg19UCSC Ensembl
Outerchr4:40444369..40631862hg18UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv12303, nssv11812, nssv12025, nssv11745
SamplesNA07048, NA18537, NA18942, NA18980
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)nsv10486
Frequency
Sample Size31
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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