A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480710



Internal ID258209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125484000..125493000hg38UCSC Ensembl
chr8:126496242..126505242hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg389001
hg199001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015401
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480710
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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