A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6466854



Internal ID21124407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104266615..104266746hg38UCSC Ensembl
chr12:104660393..104660524hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17995693
Samples
Known GenesTXNRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6466854
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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