A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524486



Internal ID22393919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:38856738..38856738hg38UCSC Ensembl
chr13:39430875..39430875hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14388954
SamplesNA19240
Known GenesFREM2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3524486
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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