A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707123



Internal ID130789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69361931..69361931hg38UCSC Ensembl
chr16:69395834..69395834hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424366
Supporting Variants
Samples
Known GenesTERF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707123
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.219428


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