A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508139



Internal ID284838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39160128..39192128hg38UCSC Ensembl
chr12:39553930..39585930hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3832001
hg1932001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058358
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508139
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