A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723493



Internal ID147159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41373621..41373621hg38UCSC Ensembl
chr19:41879526..41879526hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38672
hg19672
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5546596
Supporting Variants
Samples
Known GenesTMEM91
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723493
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1


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