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nsv5717895

  • 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: 388 SVs from 28 studies. See in: genome view    
Submitted genomic54,747,390-54,747,390Question Mark
Overlapping variant regions from other studies: 382 SVs from 26 studies. See in: genome view    
Remapped(Score: Perfect):54,773,823-54,773,823Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStop
nsv5717895Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000023.11ChrX54,747,39054,747,390
nsv5717895RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000023.10ChrX54,773,82354,773,823

Variant Call Information

Variant Call IDTypeMethodAnalysis
nssv17203922alu insertionSequencingOther
nssv17230979alu insertionSequencingOther

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStop
nssv17203922Submitted genomicNC_000023.11:g.547
47390_54747391ins2
76
GRCh38 (hg38)NC_000023.11ChrX54,747,39054,747,390
nssv17230979Submitted genomicNC_000023.11:g.547
47390_54747391ins2
81
GRCh38 (hg38)NC_000023.11ChrX54,747,39054,747,390
nssv17203922RemappedPerfectNC_000023.10:g.547
73823_54773824ins2
76
GRCh37.p13First PassNC_000023.10ChrX54,773,82354,773,823
nssv17230979RemappedPerfectNC_000023.10:g.547
73823_54773824ins2
81
GRCh37.p13First PassNC_000023.10ChrX54,773,82354,773,823

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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