A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3563718



Internal ID22432454
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14317176
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)nsv3563718
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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