A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480298



Internal ID257806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103396266..103398658hg38UCSC Ensembl
chr8:104408494..104410886hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg382393
hg192393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014298
Samples
Known GenesSLC25A32
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480298
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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