A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709753



Internal ID133419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:80384652..80386644hg38UCSC Ensembl
chr16:80418549..80420541hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg381993
hg191993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5515685
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709753
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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