A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523321



Internal ID22392748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:57277715..57277715hg38UCSC Ensembl
chr14:57744433..57744433hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14445455, nssv14417973, nssv14392300
SamplesNA19240, HG00733, HG00514
Known GenesAP5M1
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)nsv3523321
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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