A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588155



Internal ID16028878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18795358..19020595hg38UCSC Ensembl
Innerchr22:18782871..19008108hg19UCSC Ensembl
Innerchr22:17162871..17388108hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38225238
hg19225238
hg18225238
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv951577
Samples
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)nsv588155
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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