A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv870e212



Internal ID22783797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:86522450..86534970hg38UCSC Ensembl
chr16:86556056..86568576hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg3812521
hg1912521
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582424, esv3582425
Samples400105BB, 400377WJ, 401726LW, 400312CR, 400704LC
Known GenesMTHFSD
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)dgv870e212
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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