A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550167



Internal ID323757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:116812456..116812456hg38UCSC Ensembl
chr11:116683172..116683172hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17050360
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550167
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