A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12537



Internal ID15841811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196828476..196833019hg38UCSC Ensembl
Outerchr3:196828097..196833536hg38UCSC Ensembl
Innerchr3:196555347..196559890hg19UCSC Ensembl
Outerchr3:196554968..196560407hg19UCSC Ensembl
Innerchr3:198039744..198044287hg18UCSC Ensembl
Outerchr3:198039365..198044804hg18UCSC Ensembl
Innerchr3:198043657..198048200hg17UCSC Ensembl
Outerchr3:198043278..198048717hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg385440
hg195440
hg185440
hg175440
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10391
Supporting Variants
SamplesNA19132
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)nssv12537
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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