A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3544566



Internal ID22413600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:107949724..107949724hg38UCSC Ensembl
chrX:107192954..107192954hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38512
hg19512
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14429898
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)nsv3544566
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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