A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3549706



Internal ID22418647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:97647884..97647884hg38UCSC Ensembl
chrX:96902883..96902883hg19UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14429185
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3549706
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer