A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3565773



Internal ID22434487
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14350017, nssv14350016
SamplesHG00732, HG00733
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)nsv3565773
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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