A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486789



Internal ID264144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:122983452..122985120hg38UCSC Ensembl
chr8:123995692..123997360hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg381669
hg191669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17018512
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486789
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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