A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522940



Internal ID22392364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52940230..52940230hg38UCSC Ensembl
chr6:52805028..52805028hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14426891
SamplesHG00514
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)nsv3522940
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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