A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513374



Internal ID289900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:40063158..40070585hg38UCSC Ensembl
chr12:40456960..40464387hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg387428
hg197428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058102
Samples
Known GenesSLC2A13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513374
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