A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14375450



Internal ID22321966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:107887392..107887392hg38UCSC Ensembl
chr13:108539740..108539740hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557709
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14375450
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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