A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3552088



Internal ID22420990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:84080384..84080384hg38UCSC Ensembl
chrX:83335392..83335392hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg381371
hg191371
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14429136
SamplesHG00514
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)nsv3552088
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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