A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507213



Internal ID283942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104349723..104359441hg38UCSC Ensembl
chr12:104743501..104753219hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg389719
hg199719
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690522
Samples
Known GenesTXNRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507213
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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