A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5878089



Internal ID22653054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41963540..41964739hg38UCSC Ensembl
chr18:39543505..39544704hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17478461
Samples
Known GenesPIK3C3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5878089
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer