A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18139



Internal ID15490292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5763674..5787826hg38UCSC Ensembl
Outerchr11:5763253..5788548hg38UCSC Ensembl
Innerchr11:5784904..5809056hg19UCSC Ensembl
Outerchr11:5784483..5809778hg19UCSC Ensembl
Innerchr11:5741480..5765632hg18UCSC Ensembl
Outerchr11:5741059..5766354hg18UCSC Ensembl
Innerchr11:5741480..5765632hg17UCSC Ensembl
Outerchr11:5741059..5766354hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3825296
hg1925296
hg1825296
hg1725296
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8784
Supporting Variants
SamplesNA18572
Known GenesOR52N1, OR52N5
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)nssv18139
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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