A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21673



Internal ID15833636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:842232..851608hg38UCSC Ensembl
Outerchr11:840951..852059hg38UCSC Ensembl
Innerchr11:842232..851608hg19UCSC Ensembl
Outerchr11:840951..852059hg19UCSC Ensembl
Innerchr11:832232..841608hg18UCSC Ensembl
Outerchr11:830951..842059hg18UCSC Ensembl
Innerchr11:832232..841608hg17UCSC Ensembl
Outerchr11:830951..842059hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3811109
hg1911109
hg1811109
hg1711109
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8760
Supporting Variants
SamplesNA18504
Known GenesPOLR2L, TSPAN4
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)nssv21673
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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