A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706122



Internal ID129788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:19125517..19174534hg38UCSC Ensembl
chr16:19136839..19185856hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3849018
hg1949018
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5530724
Supporting Variants
Samples
Known GenesSYT17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706122
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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