A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14285155



Internal ID22132215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59298594..59298594hg38UCSC Ensembl
chr18:56965826..56965826hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561019
Supporting Variants
SamplesHG00513
Known GenesCPLX4
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)nssv14285155
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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