A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706344



Internal ID130010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3208338..3350553hg38UCSC Ensembl
chr16:3258338..3400553hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38142216
hg19142216
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5521358
Supporting Variants
Samples
Known GenesLINC00921, MEFV, OR1F2P, TIGD7, ZNF200, ZNF263, ZNF75A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706344
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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