A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17015682



Internal ID78105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:104430971..104431022hg38UCSC Ensembl
chr8:105443199..105443250hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5413391
Supporting Variants
Samples
Known GenesDPYS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17015682
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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