A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12863



Internal ID15839232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:121593608..121594679hg38UCSC Ensembl
Outerchr3:121592869..121595117hg38UCSC Ensembl
Innerchr3:121312455..121313526hg19UCSC Ensembl
Outerchr3:121311716..121313964hg19UCSC Ensembl
Innerchr3:122795145..122796216hg18UCSC Ensembl
Outerchr3:122794406..122796654hg18UCSC Ensembl
Innerchr3:122795145..122796216hg17UCSC Ensembl
Outerchr3:122794406..122796654hg17UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg382249
hg192249
hg182249
hg172249
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10310
Supporting Variants
SamplesNA18972
Known GenesFBXO40
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)nssv12863
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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