nsv5684448

  • 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: 102 SVs from 18 studies. See in: genome view    
Submitted genomic11,273,115-11,273,115Question Mark
Overlapping variant regions from other studies: 102 SVs from 18 studies. See in: genome view    
Remapped(Score: Perfect):11,413,241-11,413,241Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStop
nsv5684448Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000002.12Chr211,273,11511,273,115
nsv5684448RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000002.11Chr211,413,24111,413,241

Variant Call Information

Variant Call IDTypeMethodAnalysis
nssv17196398alu insertionSequencingOther
nssv17205888alu insertionSequencingOther

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStop
nssv17196398Submitted genomicNC_000002.12:g.112
73115_11273116ins2
79		GRCh38 (hg38)NC_000002.12Chr211,273,11511,273,115
nssv17205888Submitted genomicNC_000002.12:g.112
73115_11273116ins2
79		GRCh38 (hg38)NC_000002.12Chr211,273,11511,273,115
nssv17196398RemappedPerfectNC_000002.11:g.114
13241_11413242ins2
79		GRCh37.p13First PassNC_000002.11Chr211,413,24111,413,241
nssv17205888RemappedPerfectNC_000002.11:g.114
13241_11413242ins2
79		GRCh37.p13First PassNC_000002.11Chr211,413,24111,413,241

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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