A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709346



Internal ID133012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:46945654..46945694hg38UCSC Ensembl
chr16:46979566..46979606hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5537876
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709346
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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