A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14405246



Internal ID22317102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:155282327..155282327hg38UCSC Ensembl
chrX:154511616..154511616hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521861
Supporting Variants
SamplesNA19240
Known GenesCLIC2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14405246
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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