A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709522



Internal ID133188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:58517790..58517824hg38UCSC Ensembl
chr16:58551694..58551728hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5534487
Supporting Variants
Samples
Known GenesSETD6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709522
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.011552


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