A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7983n54



Internal ID19000159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19762002..20321870hg38UCSC Ensembl
chr22:19749525..20309393hg19UCSC Ensembl
chr22:18129525..18689393hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38559869
hg19559869
hg18559869
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588237, nsv588239
Samples
Known GenesARVCF, C22orf29, COMT, DGCR6L, DGCR8, GNB1L, LINC00896, LOC284865, LOC388849, MIR1286, MIR1306, MIR185, MIR3618, MIR4761, MIR6816, RANBP1, RTN4R, TANGO2, TBX1, TRMT2A, TXNRD2, ZDHHC8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7983n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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