A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706246



Internal ID129912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:27041641..27077648hg38UCSC Ensembl
chr16:27052962..27088969hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3836008
hg1936008
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5522856
Supporting Variants
Samples
Known GenesC16orf82
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706246
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003435


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