A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17022687



Internal ID82811
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 StatusS
Merged Variantsnsv5493203
Supporting Variants
Samples
Known GenesPCSK5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17022687
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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