U.S. flag

An official website of the United States government

nsv5677990

  • Variant Calls:1
  • 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: 107 SVs from 28 studies. See in: genome view    
Submitted genomic54,212,418-54,212,418Question Mark
Overlapping variant regions from other studies: 107 SVs from 28 studies. See in: genome view    
Remapped(Score: Perfect):54,077,216-54,077,216Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStop
nsv5677990Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000006.12Chr654,212,41854,212,418
nsv5677990RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000006.11Chr654,077,21654,077,216

Variant Call Information

Variant Call IDTypeMethodAnalysis
nssv17178904alu insertionSequencingOther

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStop
nssv17178904Submitted genomicNC_000006.12:g.542
12418_54212419ins2
81
GRCh38 (hg38)NC_000006.12Chr654,212,41854,212,418
nssv17178904RemappedPerfectNC_000006.11:g.540
77216_54077217ins2
81
GRCh37.p13First PassNC_000006.11Chr654,077,21654,077,216

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.

Support Center