A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv97e212



Internal ID22783024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120819551..120911211hg38UCSC Ensembl
chr1:147933973..148020200hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3891661
hg1986228
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578156, esv3578163, esv3578162, esv3578165, esv3578164
Samples400970VE, 401117NA, 401589HP, 400914ER, 400681MC, 401981GF
Known GenesNBPF8, PPIAL4A, PPIAL4B
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)dgv97e212
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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