A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17705384



Internal ID129050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2918348..2938730hg38UCSC Ensembl
chr16:2968349..2988731hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3820383
hg1920383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5514526
Supporting Variants
Samples
Known GenesFLYWCH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17705384
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