A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12229



Internal ID15836893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:62745214..62806468hg38UCSC Ensembl
Outerchr5:62743897..62809587hg38UCSC Ensembl
Innerchr5:62041041..62102295hg19UCSC Ensembl
Outerchr5:62039724..62105414hg19UCSC Ensembl
Innerchr5:62076797..62138051hg18UCSC Ensembl
Outerchr5:62075480..62141170hg18UCSC Ensembl
Innerchr5:62076797..62138051hg17UCSC Ensembl
Outerchr5:62075480..62141170hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3865691
hg1965691
hg1865691
hg1765691
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10706
Supporting Variants
SamplesNA18572
Known Genes
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)nssv12229
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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