A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473432



Internal ID251119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:129034436..129034513hg38UCSC Ensembl
chr5:128370129..128370206hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973870
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473432
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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