A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505039



Internal ID281827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114586939..114610914hg38UCSC Ensembl
chr12:115024744..115048719hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3823976
hg1923976
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690739
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505039
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