A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488530



Internal ID265840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:106428183..106433037hg38UCSC Ensembl
chr8:107440411..107445265hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg384855
hg194855
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015900
Samples
Known GenesOXR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488530
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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