A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6489389



Internal ID21146942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111721500..111727158hg38UCSC Ensembl
chr12:112159304..112164962hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg385659
hg195659
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17996984
Samples
Known GenesACAD10
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6489389
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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