A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6461840



Internal ID21119393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104274307..104277687hg38UCSC Ensembl
chr12:104668085..104671465hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg383381
hg193381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17995695
Samples
Known GenesTXNRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6461840
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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