A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14317176



Internal ID22226404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169667698..169667698hg38UCSC Ensembl
chr4:170588849..170588849hg19UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3563718
Supporting Variants
SamplesHG00733
Known GenesCLCN3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14317176
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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