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nsv5127940

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: No
  • Region Size:17

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 109 SVs from 28 studies. See in: genome view    
Submitted genomic54,070,628-54,070,644Question Mark
Overlapping variant regions from other studies: 109 SVs from 28 studies. See in: genome view    
Remapped(Score: Perfect):54,464,412-54,464,428Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStop
nsv5127940Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000012.12Chr1254,070,62854,070,644
nsv5127940RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000012.11Chr1254,464,41254,464,428

Variant Call Information

Variant Call IDTypeMethodAnalysis
nssv16690260alu insertionSequencingSplit read and paired-end mapping

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStop
nssv16690260Submitted genomicNC_000012.12:g.540
70628_54070644ins1
33
GRCh38 (hg38)NC_000012.12Chr1254,070,62854,070,644
nssv16690260RemappedPerfectNC_000012.11:g.544
64412_54464428ins1
33
GRCh37.p13First PassNC_000012.11Chr1254,464,41254,464,428

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call IDAllele Frequency (AF)
nssv166902600.571
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