A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204550



Internal ID20771590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19329117..19335307hg38UCSC Ensembl
chr22:19316640..19322830hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg386191
hg196191
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6539371
Supporting Variants
Samples
Known GenesHIRA
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204550
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00038


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