A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723069



Internal ID146735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:36141058..36141121hg38UCSC Ensembl
chr19:36631960..36632023hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532202
Supporting Variants
Samples
Known GenesCAPNS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723069
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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