A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704837



Internal ID128503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4802944..4802958hg38UCSC Ensembl
chr16:4852945..4852959hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5536690
Supporting Variants
Samples
Known GenesROGDI
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704837
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