A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3565964



Internal ID22434673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:40080080..40080080hg38UCSC Ensembl
chrX:39939333..39939333hg19UCSC Ensembl
CytobandXp11.4
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 Variantsnssv14350302, nssv14350304, nssv14350303, nssv14350301
SamplesHG00512, NA19238, HG00513, HG00514
Known GenesBCOR
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)nsv3565964
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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