A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17395402



Internal ID22453272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20572648..20594907hg38UCSC Ensembl
chr22:20926935..20949194hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3822260
hg1922260
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5958126
Supporting Variants
Samples
Known GenesMED15
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17395402
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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