A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512228



Internal ID288789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50322357..50323428hg38UCSC Ensembl
chr12:50716140..50717211hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381072
hg191072
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056479
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512228
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