A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16933399



Internal ID23001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50116017..50116107hg38UCSC Ensembl
chr3:50153450..50153540hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434143
Supporting Variants
Samples
Known GenesRBM5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16933399
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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