A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520381



Internal ID22389789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:80557295..80557295hg38UCSC Ensembl
chr6:81267012..81267012hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14401156
SamplesNA19240
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)nsv3520381
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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