A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588200



Internal ID16028923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18919892..19020595hg38UCSC Ensembl
Innerchr22:18907405..19008108hg19UCSC Ensembl
Innerchr22:17287405..17388108hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38100704
hg19100704
hg18100704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7975n54
Supporting Variantsnssv951682, nssv1151461
SamplesHGDP01418
Known GenesDGCR5, DGCR9, PRODH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588200
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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