A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6473233



Internal ID21130786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:90983156..90983583hg38UCSC Ensembl
chr12:91376933..91377360hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18005564
Samples
Known GenesEPYC
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6473233
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