A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923452



Internal ID16406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189859295..189859346hg38UCSC Ensembl
chr2:190724021..190724072hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5394205
Supporting Variants
Samples
Known GenesPMS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923452
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