A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5989462



Internal ID21898805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53905143..53905289hg38UCSC Ensembl
chr2:54132280..54132426hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17529566
Samples
Known GenesPSME4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5989462
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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