A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483973



Internal ID261398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:98921233..98921295hg38UCSC Ensembl
chr8:99933461..99933523hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17016134
Samples
Known GenesSTK3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483973
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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