A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5991500



Internal ID21900843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129759875..129764912hg38UCSC Ensembl
chr3:129478718..129483755hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg385038
hg195038
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17550391
Samples
Known GenesTMCC1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5991500
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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