A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14403184



Internal ID22289734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:45121761..45121761hg38UCSC Ensembl
chrX:44981006..44981006hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg381114
hg191114
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3544174
Supporting Variants
SamplesNA19240
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)nssv14403184
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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