A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv951870



Internal ID16245826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19919576..20321870hg38UCSC Ensembl
Innerchr22:19907099..20309393hg19UCSC Ensembl
Innerchr22:18287099..18689393hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38402295
hg19402295
hg18402295
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588239
Supporting Variants
Samples
Known GenesARVCF, COMT, DGCR6L, DGCR8, LINC00896, LOC284865, LOC388849, MIR1286, MIR1306, MIR185, MIR3618, MIR4761, MIR6816, RANBP1, RTN4R, TANGO2, TRMT2A, TXNRD2, ZDHHC8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv951870
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer