A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12788



Internal ID15830558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196690692..196691408hg38UCSC Ensembl
Outerchr3:196690282..196692978hg38UCSC Ensembl
Innerchr3:196417563..196418279hg19UCSC Ensembl
Outerchr3:196417153..196419849hg19UCSC Ensembl
Innerchr3:197901960..197902676hg18UCSC Ensembl
Outerchr3:197901550..197904246hg18UCSC Ensembl
Innerchr3:197905873..197906589hg17UCSC Ensembl
Outerchr3:197905463..197908159hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg382697
hg192697
hg182697
hg172697
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10390
Supporting Variants
SamplesNA12155
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)nssv12788
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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