A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588173



Internal ID16028896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18890274..19019828hg38UCSC Ensembl
Innerchr22:18877787..19007341hg19UCSC Ensembl
Innerchr22:17257787..17387341hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38129555
hg19129555
hg18129555
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7969n54
Supporting Variantsnssv1151431, nssv1151430, nssv1151429
SamplesHGDP00021, HGDP00582, HGDP01268
Known GenesDGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588173
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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