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nsv5682213

  • 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: 162 SVs from 19 studies. See in: genome view    
Submitted genomic174,213,972-174,213,972Question Mark
Overlapping variant regions from other studies: 162 SVs from 19 studies. See in: genome view    
Remapped(Score: Perfect):175,078,700-175,078,700Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStop
nsv5682213Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000002.12Chr2174,213,972174,213,972
nsv5682213RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000002.11Chr2175,078,700175,078,700

Variant Call Information

Variant Call IDTypeMethodAnalysis
nssv17209228alu insertionSequencingOther
nssv17215352alu insertionSequencingOther

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStop
nssv17209228Submitted genomicNC_000002.12:g.174
213972_174213973in
s276
GRCh38 (hg38)NC_000002.12Chr2174,213,972174,213,972
nssv17215352Submitted genomicNC_000002.12:g.174
213972_174213973in
s279
GRCh38 (hg38)NC_000002.12Chr2174,213,972174,213,972
nssv17209228RemappedPerfectNC_000002.11:g.175
078700_175078701in
s276
GRCh37.p13First PassNC_000002.11Chr2175,078,700175,078,700
nssv17215352RemappedPerfectNC_000002.11:g.175
078700_175078701in
s279
GRCh37.p13First PassNC_000002.11Chr2175,078,700175,078,700

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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