A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17015932



Internal ID78269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:114013519..114013554hg38UCSC Ensembl
chr8:115025748..115025783hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5553478
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17015932
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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