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  • Variant Calls:1
  • Validation:Fail
  • Clinical Assertions: No
  • Region Size:1,678
  • Description:A processed transcript of the SMS gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample, by convention it must be referred to here as a deletion.
  • Publication(s):Schrider et al. 2013

Links to Other Resources

Genome View

Select assembly:
Overlapping variant regions from other studies: 124 SVs from 22 studies. See in: genome view    
Remapped(Score: Perfect):160,894,889-160,896,566Question Mark
Overlapping variant regions from other studies: 128 SVs from 22 studies. See in: genome view    
Submitted genomic160,864,679-160,866,356Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrOuter StartOuter Stop
nsv930467RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000001.11Chr1160,894,889160,896,566
nsv930467Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000001.10Chr1160,864,679160,866,356

Variant Call Information

Variant Call IDTypeMethodAnalysis
nssv1607678deletionSequencingPaired-end mapping

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrOuter StartOuter Stop
GRCh38.p12First PassNC_000001.11Chr1160,894,889160,896,566
nssv1607678Submitted genomicNC_000001.10:g.(16
GRCh37 (hg19)NC_000001.10Chr1160,864,679160,866,356

Validation Information

Variant Call IDExperiment IDMethodAnalysisResult
nssv16076782PCRManual observationFail

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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