A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535854



Internal ID311437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223116621..223116649hg38UCSC Ensembl
chr1:223289963..223289991hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895988
Samples
Known GenesTLR5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535854
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