A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2552e212



Internal ID22785479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:13987996..14180158hg38UCSC Ensembl
chrY:16099876..16292038hg19UCSC Ensembl
CytobandYq11.221
Allele length
AssemblyAllele length
hg38192163
hg19192163
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577581, esv3577584
Samples401355CD, 400493KH
Known GenesVCY, VCY1B
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)dgv2552e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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