A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494054



Internal ID271213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49004636..49004913hg38UCSC Ensembl
chr12:49398419..49398696hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058219
Samples
Known GenesPRKAG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494054
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