A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523768



Internal ID22393196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:107418230..107418230hg38UCSC Ensembl
chrX:106661460..106661460hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14429893, nssv14404391
SamplesNA19240, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3523768
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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