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nsv5705648

  • 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: 77 SVs from 29 studies. See in: genome view    
Submitted genomic14,478,481-14,478,481Question Mark
Overlapping variant regions from other studies: 76 SVs from 28 studies. See in: genome view    
Remapped(Score: Perfect):14,500,027-14,500,027Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStop
nsv5705648Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000011.10Chr1114,478,48114,478,481
nsv5705648RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000011.9Chr1114,500,02714,500,027

Variant Call Information

Variant Call IDTypeMethodAnalysis
nssv17190371alu insertionSequencingOther
nssv17226631alu insertionSequencingOther

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStop
nssv17190371Submitted genomicNC_000011.10:g.144
78481_14478482ins2
79
GRCh38 (hg38)NC_000011.10Chr1114,478,48114,478,481
nssv17226631Submitted genomicNC_000011.10:g.144
78481_14478482ins2
79
GRCh38 (hg38)NC_000011.10Chr1114,478,48114,478,481
nssv17190371RemappedPerfectNC_000011.9:g.1450
0027_14500028ins27
9
GRCh37.p13First PassNC_000011.9Chr1114,500,02714,500,027
nssv17226631RemappedPerfectNC_000011.9:g.1450
0027_14500028ins27
9
GRCh37.p13First PassNC_000011.9Chr1114,500,02714,500,027

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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