A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724474



Internal ID148140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:58509882..58512141hg38UCSC Ensembl
chr19:59021249..59023508hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg382260
hg192260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5518587
Supporting Variants
Samples
Known GenesSLC27A5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724474
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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