A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv75e212



Internal ID22783002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108226667..108495478hg38UCSC Ensembl
chr1:108769289..109038100hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38268812
hg19268812
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3583804, esv3583915
Samples401536BD, 400719TM
Known GenesNBPF4, NBPF6
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)dgv75e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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