A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550733



Internal ID324253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45540266..45540270hg38UCSC Ensembl
chr13:46114401..46114405hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687419
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550733
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