A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14349913



Internal ID22229116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:14899131..14899131hg38UCSC Ensembl
chrX:14917253..14917253hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3565580
Supporting Variants
SamplesHG00733
Known GenesMOSPD2
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)nssv14349913
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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