A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485496



Internal ID262885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:133820528..133823530hg38UCSC Ensembl
chr8:134832771..134835773hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg383003
hg193003
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17018751
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485496
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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