A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20349



Internal ID15484548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5778630..5786749hg38UCSC Ensembl
Outerchr11:5778128..5787826hg38UCSC Ensembl
Innerchr11:5799860..5807979hg19UCSC Ensembl
Outerchr11:5799358..5809056hg19UCSC Ensembl
Innerchr11:5756436..5764555hg18UCSC Ensembl
Outerchr11:5755934..5765632hg18UCSC Ensembl
Innerchr11:5756436..5764555hg17UCSC Ensembl
Outerchr11:5755934..5765632hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg389699
hg199699
hg189699
hg179699
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8784
Supporting Variants
SamplesNA12740
Known GenesOR52N5
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)nssv20349
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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