A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709483



Internal ID133149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:57568541..57569198hg38UCSC Ensembl
chr16:57602453..57603110hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38658
hg19658
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5516606
Supporting Variants
Samples
Known GenesGPR114
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709483
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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