A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204551



Internal ID20771591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19434461..19438878hg38UCSC Ensembl
chr22:19421984..19426401hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg384418
hg194418
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6547730
Supporting Variants
Samples
Known GenesMRPL40
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204551
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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