A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707300



Internal ID130966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31437639..31440497hg38UCSC Ensembl
chr16:31448960..31451818hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382859
hg192859
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5517923
Supporting Variants
Samples
Known GenesZNF843
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707300
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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