A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17705930



Internal ID129596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:54220460..54220511hg38UCSC Ensembl
chr16:54254372..54254423hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421872
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17705930
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002029


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