A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3547686



Internal ID22416651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:84080387..84080387hg38UCSC Ensembl
chrX:83335395..83335395hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg381374
hg191374
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14459580, nssv14403416
SamplesNA19240, HG00733
Known GenesRPS6KA6
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a L1P mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3547686
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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