A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976945



Internal ID52026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180684834..180791724hg38UCSC Ensembl
chr5:180111834..180218724hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38106891
hg19106891
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5463196
Supporting Variants
Samples
Known GenesMGAT1, OR2Y1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16976945
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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