A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17731523



Internal ID155189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:21182180..21182249hg38UCSC Ensembl
chr20:21162820..21162889hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5521157
Supporting Variants
Samples
Known GenesPLK1S1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17731523
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