A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480574



Internal ID258080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:58496598..58497241hg38UCSC Ensembl
chr8:59409157..59409800hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38644
hg19644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012425
Samples
Known GenesCYP7A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480574
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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