A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17732065



Internal ID155731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:34100450..34100973hg38UCSC Ensembl
chr20:32688256..32688779hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5525672
Supporting Variants
Samples
Known GenesEIF2S2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17732065
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001405


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