A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709435



Internal ID133101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56793859..56794097hg38UCSC Ensembl
chr16:56827771..56828009hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520640
Supporting Variants
Samples
Known GenesNUP93
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709435
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