A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17730389



Internal ID154055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:3137499..3139625hg38UCSC Ensembl
chr20:3118145..3120271hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg382127
hg192127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532396
Supporting Variants
Samples
Known GenesUBOX5, UBOX5-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17730389
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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