A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978654



Internal ID22753589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43873778..43873778hg38UCSC Ensembl
chr19:44377930..44377930hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38589
hg19589
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17406533
Samples
Known GenesZNF404
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5978654
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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