A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488251



Internal ID265570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127803766..127807369hg38UCSC Ensembl
chr8:128816012..128819615hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg383604
hg193604
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735860
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488251
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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