A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16963019



Internal ID42673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:18831164..18981511hg38UCSC Ensembl
chr5:18831273..18981620hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38150348
hg19150348
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5470379
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16963019
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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