A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5484510



Internal ID261920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94460724..94464488hg38UCSC Ensembl
chr8:95472952..95476716hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg383765
hg193765
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014563
Samples
Known GenesRAD54B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5484510
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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