A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17721846



Internal ID145512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16248000..16256000hg38UCSC Ensembl
chr19:16358811..16366811hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5515596
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17721846
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000314


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