A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16906009



Internal ID4807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:55029217..55043368hg38UCSC Ensembl
chr1:55494890..55509041hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3814152
hg1914152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423585
Supporting Variants
Samples
Known GenesPCSK9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16906009
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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