A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457043



Internal ID235098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:128118291..128118943hg38UCSC Ensembl
chr4:129039446..129040098hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38653
hg19653
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16955319
Samples
Known GenesLARP1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457043
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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