A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9818309



Internal ID18668650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55820834..55846724hg38UCSC Ensembl
Innerchr19:56332200..56358090hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3825891
hg1925891
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575075
Supporting Variants
Samples401254AE
Known GenesNLRP11, NLRP4
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
CommentsNumber of probes=36
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9818309
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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