A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558517



Internal ID22427320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52082059..52082059hg38UCSC Ensembl
chr4:52948225..52948225hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14398377
SamplesNA19240
Known GenesSPATA18
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)nsv3558517
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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