A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17731949



Internal ID155615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:32361801..32361982hg38UCSC Ensembl
chr20:30949604..30949785hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5528292
Supporting Variants
Samples
Known GenesASXL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17731949
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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