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nsv5684731

  • 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: 108 SVs from 24 studies. See in: genome view    
Submitted genomic133,876,978-133,876,978Question Mark
Overlapping variant regions from other studies: 108 SVs from 24 studies. See in: genome view    
Remapped(Score: Perfect):134,198,116-134,198,116Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStop
nsv5684731Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000006.12Chr6133,876,978133,876,978
nsv5684731RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000006.11Chr6134,198,116134,198,116

Variant Call Information

Variant Call IDTypeMethodAnalysis
nssv17181905alu insertionSequencingOther
nssv17222695alu insertionSequencingOther

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStop
nssv17181905Submitted genomicNC_000006.12:g.133
876978_133876979in
s280
GRCh38 (hg38)NC_000006.12Chr6133,876,978133,876,978
nssv17222695Submitted genomicNC_000006.12:g.133
876978_133876979in
s280
GRCh38 (hg38)NC_000006.12Chr6133,876,978133,876,978
nssv17181905RemappedPerfectNC_000006.11:g.134
198116_134198117in
s280
GRCh37.p13First PassNC_000006.11Chr6134,198,116134,198,116
nssv17222695RemappedPerfectNC_000006.11:g.134
198116_134198117in
s280
GRCh37.p13First PassNC_000006.11Chr6134,198,116134,198,116

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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