A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20467



Internal ID15830030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:2862153..2870829hg38UCSC Ensembl
Outerchr11:2861205..2871450hg38UCSC Ensembl
Innerchr11:2883383..2892059hg19UCSC Ensembl
Outerchr11:2882435..2892680hg19UCSC Ensembl
Innerchr11:2839959..2848635hg18UCSC Ensembl
Outerchr11:2839011..2849256hg18UCSC Ensembl
Innerchr11:2839959..2848635hg17UCSC Ensembl
Outerchr11:2839011..2849256hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3810246
hg1910246
hg1810246
hg1710246
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8765
Supporting Variants
SamplesNA11830
Known GenesKCNQ1DN
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)nssv20467
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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