A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17391408



Internal ID22449278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:32361845..32362414hg38UCSC Ensembl
chr20:30949648..30950217hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38570
hg19570
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5959256
Supporting Variants
Samples
Known GenesASXL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17391408
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer