A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485781



Internal ID263163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:76186552..76196552hg38UCSC Ensembl
chr9:78801468..78811468hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3810001
hg1910001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17022685
Samples
Known GenesPCSK5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485781
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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