A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17708982



Internal ID132648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:50894641..50894783hg38UCSC Ensembl
chr16:50928552..50928694hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5516923
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17708982
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.003278


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