A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv884e212



Internal ID20149340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5496610..5516416hg38UCSC Ensembl
chr17:5399930..5419736hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3819807
hg1919807
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582502, esv3582501
Samples401385BB, 401911FL, 400730SH, 402019MC, 400109LJ, 401607LL
Known GenesLOC728392, NLRP1
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)dgv884e212
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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