A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547884



Internal ID321684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:26081730..26081730hg38UCSC Ensembl
chr18:23661694..23661694hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716781
Samples
Known GenesSS18
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547884
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