A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3519754



Internal ID22384706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:101137985..101137985hg38UCSC Ensembl
chrX:100392974..100392974hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg38672
hg19672
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14429873, nssv14404373, nssv14467181
SamplesNA19240, HG00733, HG00514
Known GenesCENPI
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3519754
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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