A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17854503



Internal ID22038146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133601849..133601849hg38UCSC Ensembl
chr3:133320693..133320693hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6254695
Supporting Variants
Samples
Known GenesTOPBP1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17854503
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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