A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3565792



Internal ID22434506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:63801325..63801325hg38UCSC Ensembl
chrX:63021205..63021205hg19UCSC Ensembl
CytobandXq11.2
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 Variantsnssv14351901, nssv14351902
SamplesNA19238, NA19240
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)nsv3565792
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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