A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17580038



Internal ID21772081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:75943175..75944465hg38UCSC Ensembl
chr9:78558091..78559381hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg381291
hg191291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6009115
Supporting Variants
Samples
Known GenesPCSK5
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17580038
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer