A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6472050



Internal ID21129603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104336913..104338669hg38UCSC Ensembl
chr12:104730691..104732447hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381757
hg191757
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17995700
Samples
Known GenesTXNRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6472050
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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