A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17854792



Internal ID22038435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:17192521..17192521hg38UCSC Ensembl
chr3:17234013..17234013hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6253745
Supporting Variants
Samples
Known GenesTBC1D5
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17854792
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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