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nsv5703007

  • 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: 277 SVs from 23 studies. See in: genome view    
Submitted genomic12,452,232-12,452,232Question Mark
Overlapping variant regions from other studies: 277 SVs from 23 studies. See in: genome view    
Remapped(Score: Perfect):12,452,231-12,452,231Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStop
nsv5703007Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000018.10Chr1812,452,23212,452,232
nsv5703007RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000018.9Chr1812,452,23112,452,231

Variant Call Information

Variant Call IDTypeMethodAnalysis
nssv17200491alu insertionSequencingOther
nssv17227109alu insertionSequencingOther

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStop
nssv17200491Submitted genomicNC_000018.10:g.124
52232_12452233ins2
79
GRCh38 (hg38)NC_000018.10Chr1812,452,23212,452,232
nssv17227109Submitted genomicNC_000018.10:g.124
52232_12452233ins2
79
GRCh38 (hg38)NC_000018.10Chr1812,452,23212,452,232
nssv17200491RemappedPerfectNC_000018.9:g.1245
2231_12452232ins27
9
GRCh37.p13First PassNC_000018.9Chr1812,452,23112,452,231
nssv17227109RemappedPerfectNC_000018.9:g.1245
2231_12452232ins27
9
GRCh37.p13First PassNC_000018.9Chr1812,452,23112,452,231

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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