A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523698



Internal ID22393126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42365936..42365936hg38UCSC Ensembl
chr13:42940072..42940072hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14417410, nssv14384909
SamplesNA19240, HG00514
Known Genes
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)nsv3523698
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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