A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv938e212



Internal ID22783865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46110126..46215376hg38UCSC Ensembl
chr17:44187492..44292742hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38105251
hg19105251
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3573330, esv3573441, esv3573509, esv3573419, esv3573353
Samples400316SL, 401292ER, 400739SS, 401275SJ, 401117NA, 401966SR, 400834SS, 400897MD, 400948EV, 401190WC, 400523GB, 400131CM, 402062KR, 402028BD, 401842BJ, 400051MR, 401687LR, 400882DD, 401538NS, 400033KC, 400121PL, 400817MB, 400729HC, 400198MD, 400302HW, 401397WN, 401652HL, 401864CV, 401067BD, 400624RJ, 401894PD, 401413RG, 400586RD, 401861GG, 400996MC, 401152MV, 400079AP
Known GenesKANSL1, KANSL1-AS1
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)dgv938e212
Frequency
Sample Size873
Observed Gain37
Observed Loss0
Observed Complex0
Frequencyn/a


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