A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17708306



Internal ID131972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:79830913..79830958hg38UCSC Ensembl
chr16:79864810..79864855hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5432612
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17708306
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.079145


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