A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524404



Internal ID22393837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:139002765..139002765hg38UCSC Ensembl
chr6:139323902..139323902hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14399592, nssv14454405
SamplesNA19240, HG00733
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)nsv3524404
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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