A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524318



Internal ID22393750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42182378..42182378hg38UCSC Ensembl
chr8:42039896..42039896hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14455995, nssv14428466, nssv14402332
SamplesNA19240, HG00733, HG00514
Known GenesPLAT
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)nsv3524318
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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