U.S. flag

An official website of the United States government

nsv930475

  • Variant Calls:1
  • Validation:Yes
  • Clinical Assertions: No
  • Region Size:26
  • Description:retroCNV insertion of a retrotransposition of TMEM126B mRNA.
  • Publication(s):Schrider et al. 2013

Links to Other Resources

Genome View

Select assembly:
Overlapping variant regions from other studies: 116 SVs from 19 studies. See in: genome view    
Remapped(Score: Perfect):12,214,153-12,214,178Question Mark
Overlapping variant regions from other studies: 116 SVs from 19 studies. See in: genome view    
Submitted genomic12,256,152-12,256,177Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrOuter StartOuter Stop
nsv930475RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr1012,214,15312,214,178
nsv930475Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr1012,256,15212,256,177

Variant Call Information

Variant Call IDTypeMethodAnalysis
nssv1607694insertionSequencingPaired-end mapping

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrOuter StartOuter Stop
nssv1607694RemappedPerfectNC_000010.11:g.(12
214153_?)_(?_12214
178)ins623
GRCh38.p12First PassNC_000010.11Chr1012,214,15312,214,178
nssv1607694Submitted genomicNC_000010.10:g.(12
256152_?)_(?_12256
177)ins623
GRCh37 (hg19)NC_000010.10Chr1012,256,15212,256,177

Validation Information

Variant Call IDExperiment IDMethodAnalysisResult
nssv16076942PCRManual observationPass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

Support Center