A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv98e212



Internal ID22783025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120819597..120871700hg38UCSC Ensembl
chr1:147973428..148020154hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3852104
hg1946727
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578167, esv3578154, esv3578166
Samples401966SR, 400375KA, 400362TV, 400201PK
Known GenesNBPF8
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)dgv98e212
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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