A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494838



Internal ID271968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:84875002..84875676hg38UCSC Ensembl
chr12:85268781..85269455hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38675
hg19675
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689723
Samples
Known GenesSLC6A15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494838
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