A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5563050



Internal ID335988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104290178..104290189hg38UCSC Ensembl
chr12:104683956..104683967hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3812
hg1912
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690513
Samples
Known GenesTXNRD1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5563050
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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