A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588237



Internal ID16028960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19762002..20319470hg38UCSC Ensembl
Innerchr22:19749525..20306993hg19UCSC Ensembl
Innerchr22:18129525..18686993hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38557469
hg19557469
hg18557469
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7983n54
Supporting Variantsnssv951868
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)nsv588237
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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