A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205045



Internal ID20772085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46266177..46420841hg38UCSC Ensembl
chr22:46662074..46816738hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38154665
hg19154665
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6555083
Supporting Variants
Samples
Known GenesCELSR1, GTSE1, GTSE1-AS1, TRMU, TTC38
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205045
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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