A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548639



Internal ID322371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:40075469..40075505hg38UCSC Ensembl
chr18:37655433..37655469hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717561
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548639
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