A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204532



Internal ID20771572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18933001..19032100hg38UCSC Ensembl
chr22:18920514..19019613hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3899100
hg1999100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6554317
Supporting Variants
Samples
Known GenesDGCR10, DGCR5, DGCR9, PRODH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204532
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00931


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