A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588178



Internal ID16028901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18890274..19037868hg38UCSC Ensembl
Innerchr22:18877787..19025381hg19UCSC Ensembl
Innerchr22:17257787..17405381hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38147595
hg19147595
hg18147595
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7969n54
Supporting Variantsnssv951647, nssv1151458
Samples1780862274_A
Known GenesDGCR10, 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)nsv588178
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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