A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3565764



Internal ID22434478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:152833261..152833261hg38UCSC Ensembl
chrX:152001805..152001805hg19UCSC Ensembl
CytobandXq28
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 Variantsnssv14354875, nssv14354873, nssv14354874
SamplesNA19238, NA19239, NA19240
Known GenesNSDHL
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)nsv3565764
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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