A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522489



Internal ID22391911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:115436030..115436030hg38UCSC Ensembl
chrX:114670492..114670492hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14457581, nssv14429209
SamplesHG00733, 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)nsv3522489
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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