A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16920201



Internal ID14248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158587603..158587654hg38UCSC Ensembl
chr2:159444115..159444166hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg381448
hg191448
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5563729
Supporting Variants
Samples
Known GenesPKP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16920201
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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