A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547853



Internal ID321655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104267279..104267292hg38UCSC Ensembl
chr12:104661057..104661070hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690512
Samples
Known GenesTXNRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547853
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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