A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6023240



Internal ID21932583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121627616..121632350hg38UCSC Ensembl
chr12:122065522..122070256hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384735
hg194735
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17609795
Samples
Known GenesORAI1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6023240
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer