A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5988316



Internal ID21897659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239914657..239914771hg38UCSC Ensembl
chr2:240854074..240854188hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17521898
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5988316
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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