A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17725206



Internal ID148872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43877036..43877087hg38UCSC Ensembl
chr19:44381188..44381239hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5422593
Supporting Variants
Samples
Known GenesZNF404
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17725206
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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