A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1340e212



Internal ID20149796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50665264..50681652hg38UCSC Ensembl
chr22:51103692..51120080hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3816389
hg1916389
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3575509, esv3575512, esv3575511, esv3575513, esv3575508
Samples400906BR, 400083TG, 401908YM, 400650RM, 400929MM, 401922MW, 401882CR, 401576WC
Known GenesSHANK3
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)dgv1340e212
Frequency
Sample Size873
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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