A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972679



Internal ID49153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:116744797..116748356hg38UCSC Ensembl
chr5:116080493..116084052hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg383560
hg193560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5471757
Supporting Variants
Samples
Known GenesLOC102467223
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972679
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