A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12276



Internal ID15829491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:184237555..184237848hg38UCSC Ensembl
Outerchr4:184236394..184238653hg38UCSC Ensembl
Innerchr4:185158708..185159001hg19UCSC Ensembl
Outerchr4:185157547..185159806hg19UCSC Ensembl
Innerchr4:185395702..185395995hg18UCSC Ensembl
Outerchr4:185394541..185396800hg18UCSC Ensembl
Innerchr4:185533857..185534150hg17UCSC Ensembl
Outerchr4:185532696..185534955hg17UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg382260
hg192260
hg182260
hg172260
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10623
Supporting Variants
SamplesNA10863
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)nssv12276
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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