A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5492545



Internal ID269755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:93765710..93766021hg38UCSC Ensembl
chr8:94777938..94778249hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014503
Samples
Known GenesTMEM67
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5492545
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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