A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17708486



Internal ID132152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68359737..68359790hg38UCSC Ensembl
chr16:68393640..68393693hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5524495
Supporting Variants
Samples
Known GenesSMPD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17708486
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001561


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