A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14331535



Internal ID22266681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110670228..110670228hg38UCSC Ensembl
chr6:110991431..110991431hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564056
Supporting Variants
SamplesNA19238
Known GenesCDK19
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)nssv14331535
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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