A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14354938



Internal ID22316432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:155282341..155282341hg38UCSC Ensembl
chrX:154511630..154511630hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3565767
Supporting Variants
SamplesNA19240
Known GenesCLIC2
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)nssv14354938
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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