A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6242326



Internal ID22046936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:40075469..40075469hg38UCSC Ensembl
chr18:37655433..37655433hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17849312
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6242326
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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