A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6470421



Internal ID21127974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104346765..104353486hg38UCSC Ensembl
chr12:104740543..104747264hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg386722
hg196722
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185619
Samples
Known GenesTXNRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6470421
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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