A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5984602



Internal ID21893945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51508246..51508306hg38UCSC Ensembl
chr1:51973918..51973978hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17534080
Samples
Known GenesEPS15
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5984602
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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