A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473555



Internal ID251240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:87257975..87260154hg38UCSC Ensembl
chr5:86553792..86555971hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg382180
hg192180
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16968763
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473555
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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