A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494326



Internal ID271477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43736543..43742068hg38UCSC Ensembl
chr12:44130346..44135871hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg385526
hg195526
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688516
Samples
Known GenesPUS7L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494326
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