A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14444360



Internal ID22240355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:51070888..51070888hg38UCSC Ensembl
chr13:51645024..51645024hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558011
Supporting Variants
SamplesHG00733
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)nssv14444360
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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