A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494480



Internal ID271623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50983028..50986546hg38UCSC Ensembl
chr12:51376811..51380329hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383519
hg193519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058542
Samples
Known GenesSLC11A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494480
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