A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18052



Internal ID15838995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5739610..5741139hg38UCSC Ensembl
Outerchr11:5738854..5747681hg38UCSC Ensembl
Innerchr11:5760840..5762369hg19UCSC Ensembl
Outerchr11:5760084..5768911hg19UCSC Ensembl
Innerchr11:5717416..5718945hg18UCSC Ensembl
Outerchr11:5716660..5725487hg18UCSC Ensembl
Innerchr11:5717416..5718945hg17UCSC Ensembl
Outerchr11:5716660..5725487hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg388828
hg198828
hg188828
hg178828
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8783
Supporting Variants
SamplesNA18942
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)nssv18052
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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