A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523317



Internal ID22392743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61377729..61377729hg38UCSC Ensembl
chr11:61145201..61145201hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14392198, nssv14442205, nssv14414396
SamplesNA19240, HG00733, 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)nsv3523317
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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