A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588177



Internal ID16028900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18890274..19031473hg38UCSC Ensembl
Innerchr22:18877787..19018986hg19UCSC Ensembl
Innerchr22:17257787..17398986hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38141200
hg19141200
hg18141200
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7969n54
Supporting Variantsnssv951645, nssv951646, nssv951643, nssv951644
Samples
Known GenesDGCR10, DGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588177
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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