A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16940802



Internal ID27904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149020115..149020166hg38UCSC Ensembl
chr3:148737902..148737953hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5413130
Supporting Variants
Samples
Known GenesGYG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16940802
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00281


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