A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205053



Internal ID20772093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46691316..46772871hg38UCSC Ensembl
chr22:47087213..47168768hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3881556
hg1981556
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6551858
Supporting Variants
Samples
Known GenesCERK, TBC1D22A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205053
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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