A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17844841



Internal ID22028484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243166588..243166588hg38UCSC Ensembl
chr1:243329890..243329890hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6241407
Supporting Variants
Samples
Known GenesCEP170
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17844841
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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