A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978610



Internal ID53112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170040690..170040945hg38UCSC Ensembl
chr5:169467694..169467949hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5463837
Supporting Variants
Samples
Known GenesDOCK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978610
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.126912


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