A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723490



Internal ID147156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41343943..41343967hg38UCSC Ensembl
chr19:41849848..41849872hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5537927
Supporting Variants
Samples
Known GenesTGFB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723490
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.068217


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