A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723651



Internal ID147317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46389401..46389420hg38UCSC Ensembl
chr19:46892658..46892677hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5536397
Supporting Variants
Samples
Known GenesPPP5C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723651
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.03601


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