A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416025



Internal ID195266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54584087..54584138hg38UCSC Ensembl
chr18:52251318..52251369hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718345
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416025
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