A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5982580



Internal ID21891923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220041711..220042354hg38UCSC Ensembl
chr1:220215053..220215696hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38644
hg19644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17530119
Samples
Known GenesEPRS, RNU5F-1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5982580
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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