A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522764



Internal ID22392188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47299623..47299623hg38UCSC Ensembl
chr11:47321174..47321174hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14441567, nssv14414804
SamplesHG00733, HG00514
Known GenesMADD
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)nsv3522764
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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