A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520449



Internal ID22389857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134055477..134055477hg38UCSC Ensembl
chr11:133925372..133925372hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14376972, nssv14443879, nssv14415653
SamplesNA19240, HG00733, HG00514
Known Genes
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)nsv3520449
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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