A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11587



Internal ID15830260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196828476..196830733hg38UCSC Ensembl
Outerchr3:196828097..196831586hg38UCSC Ensembl
Innerchr3:196555347..196557604hg19UCSC Ensembl
Outerchr3:196554968..196558457hg19UCSC Ensembl
Innerchr3:198039744..198042001hg18UCSC Ensembl
Outerchr3:198039365..198042854hg18UCSC Ensembl
Innerchr3:198043657..198045914hg17UCSC Ensembl
Outerchr3:198043278..198046767hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg383490
hg193490
hg183490
hg173490
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10391
Supporting Variants
SamplesNA11830
Known GenesPAK2
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)nssv11587
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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