A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16891967



Internal ID168837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:172574482..172574533hg38UCSC Ensembl
chr1:172543622..172543673hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5410026
Supporting Variants
Samples
Known GenesSUCO
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16891967
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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