A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709406



Internal ID133072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48081190..48081344hg38UCSC Ensembl
chr16:48115101..48115255hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5518599
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709406
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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