A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524240



Internal ID22393670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85154441..85154441hg38UCSC Ensembl
chr1:85620124..85620124hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38512
hg19512
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14440610, nssv14412767, nssv14373110
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)nsv3524240
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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