A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558885



Internal ID22427690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48427585..48427585hg38UCSC Ensembl
chr13:49001721..49001721hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14416882
SamplesHG00514
Known GenesLPAR6, RB1
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)nsv3558885
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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