A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16938583



Internal ID26451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113723542..113723958hg38UCSC Ensembl
chr3:113442389..113442805hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38417
hg19417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5453590
Supporting Variants
Samples
Known GenesNAA50
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16938583
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000937


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