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nsv5711367

  • Variant Calls:2
  • Validation:Not tested
  • Clinical Assertions: No
  • Region Size:1
  • Description:Insertion of a Alu mobile element relative to the reference
  • Publication(s):Chuang et al. 2021

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 173 SVs from 35 studies. See in: genome view    
Submitted genomic29,550,453-29,550,453Question Mark
Overlapping variant regions from other studies: 151 SVs from 39 studies. See in: genome view    
Remapped(Score: Perfect):29,568,635-29,568,635Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStop
nsv5711367Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000020.11Chr2029,550,45329,550,453
nsv5711367RemappedPerfectGRCh37.p13Primary AssemblySecond PassNC_000020.10Chr2029,568,63529,568,635

Variant Call Information

Variant Call IDTypeMethodAnalysis
nssv17202507alu insertionSequencingOther
nssv17227269alu insertionSequencingOther

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStop
nssv17202507Submitted genomicNC_000020.11:g.295
50453_29550454ins1
32
GRCh38 (hg38)NC_000020.11Chr2029,550,45329,550,453
nssv17227269Submitted genomicNC_000020.11:g.295
50453_29550454ins1
31
GRCh38 (hg38)NC_000020.11Chr2029,550,45329,550,453
nssv17202507RemappedPerfectNC_000020.10:g.295
68635_29568636ins1
32
GRCh37.p13Second PassNC_000020.10Chr2029,568,63529,568,635
nssv17227269RemappedPerfectNC_000020.10:g.295
68635_29568636ins1
31
GRCh37.p13Second PassNC_000020.10Chr2029,568,63529,568,635

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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