A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17705289



Internal ID128955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:758695..849632hg38UCSC Ensembl
chr16:808695..899632hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3890938
hg1990938
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5525361
Supporting Variants
Samples
Known GenesCHTF18, GNG13, MIR662, MSLN, PRR25, RPUSD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17705289
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004844


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer