A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17022686



Internal ID82810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:76218595..76218745hg38UCSC Ensembl
chr9:78833511..78833661hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5478692
Supporting Variants
Samples
Known GenesPCSK5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17022686
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004839


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