A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16932677



Internal ID22508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48178215..48178215hg38UCSC Ensembl
chr3:48219705..48219705hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5394990
Supporting Variants
Samples
Known GenesCDC25A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16932677
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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