A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510368



Internal ID286990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114194274..114200201hg38UCSC Ensembl
chr12:114632079..114638006hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg385928
hg195928
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690721
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510368
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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