A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6460593



Internal ID21118146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104162863..104237065hg38UCSC Ensembl
chr12:104556641..104630843hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3874203
hg1974203
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18194666
Samples
Known GenesTXNRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6460593
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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