A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452451



Internal ID230604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:54114683..54115049hg38UCSC Ensembl
chr3:54148710..54149076hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38367
hg19367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16933498
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452451
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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