A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588181



Internal ID16028904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18890274..19109924hg38UCSC Ensembl
Innerchr22:18877787..19097437hg19UCSC Ensembl
Innerchr22:17257787..17477437hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38219651
hg19219651
hg18219651
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7973n54
Supporting Variantsnssv951656
Samples
Known GenesDGCR10, DGCR11, DGCR2, DGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588181
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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