A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14350016



Internal ID22206940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:21847586..21847586hg38UCSC Ensembl
chrX:21865704..21865704hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3565773
Supporting Variants
SamplesHG00732
Known GenesMBTPS2
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)nssv14350016
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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