A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510197



Internal ID286824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52048356..52049550hg38UCSC Ensembl
chr12:52442140..52443334hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381195
hg191195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058742
Samples
Known GenesNR4A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510197
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