A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17617202



Internal ID21809249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104274394..104274394hg38UCSC Ensembl
chr12:104668172..104668172hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6081481
Supporting Variants
Samples
Known GenesTXNRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17617202
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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