A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550154



Internal ID323745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:20691571..20691571hg38UCSC Ensembl
chr13:21265710..21265710hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685972
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550154
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