A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520909



Internal ID22390321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40678275..40678275hg38UCSC Ensembl
chr13:41252412..41252412hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14417399, nssv14386263
SamplesNA19240, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3520909
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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