A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10310



Internal ID15845273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:121592869..121595117hg38UCSC Ensembl
Outerchr3:121311716..121313964hg19UCSC Ensembl
Outerchr3:122794406..122796654hg18UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv12863
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)nsv10310
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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