A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545010



Internal ID319093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:128232682..128232682hg38UCSC Ensembl
chr8:129244928..129244928hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17016470
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545010
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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