A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11515



Internal ID15840820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197032889..197034789hg38UCSC Ensembl
Outerchr3:197031984..197035271hg38UCSC Ensembl
Innerchr3:196759760..196761660hg19UCSC Ensembl
Outerchr3:196758855..196762142hg19UCSC Ensembl
Innerchr3:198244157..198246057hg18UCSC Ensembl
Outerchr3:198243252..198246539hg18UCSC Ensembl
Innerchr3:198248070..198249970hg17UCSC Ensembl
Outerchr3:198247165..198250452hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg383288
hg193288
hg183288
hg173288
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10392
Supporting Variants
SamplesNA18980
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)nssv11515
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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