A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20139



Internal ID15831174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:2862850..2864050hg38UCSC Ensembl
Outerchr11:2862153..2865159hg38UCSC Ensembl
Innerchr11:2884080..2885280hg19UCSC Ensembl
Outerchr11:2883383..2886389hg19UCSC Ensembl
Innerchr11:2840656..2841856hg18UCSC Ensembl
Outerchr11:2839959..2842965hg18UCSC Ensembl
Innerchr11:2840656..2841856hg17UCSC Ensembl
Outerchr11:2839959..2842965hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg383007
hg193007
hg183007
hg173007
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8765
Supporting Variants
SamplesNA12740
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)nssv20139
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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