A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6029142



Internal ID21938485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104256432..104258114hg38UCSC Ensembl
chr12:104650210..104651892hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381683
hg191683
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17610117
Samples
Known GenesTXNRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6029142
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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