A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205678



Internal ID20772718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48746952..49199775hg38UCSC Ensembl
chr22:49142764..49595701hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38452824
hg19452938
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6541269
Supporting Variants
Samples
Known GenesFAM19A5, LOC100128946, MIR4535
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205678
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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