A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5989569



Internal ID21898912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53868486..53868555hg38UCSC Ensembl
chr2:54095623..54095692hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17523134
Samples
Known GenesPSME4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5989569
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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