A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14350714



Internal ID22288721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:25960346..25960346hg38UCSC Ensembl
chrX:25978463..25978463hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3565826
Supporting Variants
SamplesNA19240
Known Genes
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)nssv14350714
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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