A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505314



Internal ID282095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12481744..12484181hg38UCSC Ensembl
chr12:12634678..12637115hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg382438
hg192438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053180
Samples
Known GenesDUSP16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505314
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