A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707423



Internal ID131089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:52082784..52082835hg38UCSC Ensembl
chr16:52116696..52116747hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415283
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707423
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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