A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17396023



Internal ID22453893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17287366..17287472hg38UCSC Ensembl
chr20:17268011..17268117hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5946101
Supporting Variants
Samples
Known GenesPCSK2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17396023
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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