A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557593



Internal ID330686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10665787..10665793hg38UCSC Ensembl
chr19:10776463..10776469hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38811
hg19811
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721343
Samples
Known GenesILF3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557593
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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