A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17721398



Internal ID145064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11316787..11327794hg38UCSC Ensembl
chr19:11427463..11438470hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3811008
hg1911008
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5515435
Supporting Variants
Samples
Known GenesRAB3D, TSPAN16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17721398
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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