A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707812



Internal ID131478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48480537..48480540hg38UCSC Ensembl
chr16:48514448..48514451hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5542861
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707812
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.187686


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