A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5402017



Internal ID181390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:76166351..76166402hg38UCSC Ensembl
chr9:78781267..78781318hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17022683
Samples
Known GenesPCSK5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5402017
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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