A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520410



Internal ID22389818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80921440..80921440hg38UCSC Ensembl
chr12:81315219..81315219hg19UCSC Ensembl
Cytoband12q21.31
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 Variantsnssv14441866, nssv14385430, nssv14416544
SamplesNA19240, HG00733, HG00514
Known GenesLIN7A
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)nsv3520410
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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