A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493203



Internal ID270392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:76230245..76230298hg38UCSC Ensembl
chr9:78845161..78845214hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17022687
Samples
Known GenesPCSK5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493203
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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