A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482316



Internal ID259774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125511954..125518645hg38UCSC Ensembl
chr8:126524196..126530887hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg386692
hg196692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015405
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482316
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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