A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6551858



Internal ID20924991
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 StatusM
Merged Variants
Supporting Variantsnssv18205053
Samples
Known GenesCERK, TBC1D22A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6551858
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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