A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14463246



Internal ID22215763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76191190..76191190hg38UCSC Ensembl
chr5:75487015..75487015hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg382666
hg192666
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557779
Supporting Variants
SamplesHG00733
Known GenesSV2C
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)nssv14463246
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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