A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17732254



Internal ID155920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:37216479..37216481hg38UCSC Ensembl
chr20:35844882..35844884hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5551621
Supporting Variants
Samples
Known GenesRPN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17732254
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005776


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