A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549169



Internal ID322857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18859564..19113564hg38UCSC Ensembl
chr22:18847077..19101077hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38254001
hg19254001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727588
Samples
Known GenesDGCR10, DGCR11, DGCR2, DGCR5, DGCR6, DGCR9, PRODH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549169
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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