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nsv3219241

  • Variant Calls:2
  • Validation:Not tested
  • Clinical Assertions: No
  • Region Size:67
  • Description:Absence of a HERV mobile element insertion that is present in the reference
  • Publication(s):Chaisson et al. 2019

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 131 SVs from 24 studies. See in: genome view    
Submitted genomic13,358,679-13,358,745Question Mark
Overlapping variant regions from other studies: 131 SVs from 24 studies. See in: genome view    
Remapped(Score: Perfect):13,339,326-13,339,392Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStop
nsv3219241Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000020.11Chr2013,358,67913,358,745
nsv3219241RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000020.10Chr2013,339,32613,339,392

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisOther Calls in this Sample and Study
nssv14407630herv deletionSAMN00001696Optical mapping, SequencingOptical mapping, Sequence alignment, de novo and local sequence assembly45,591
nssv14433206herv deletionHG00514Optical mapping, SequencingOptical mapping, Sequence alignment, de novo and local sequence assembly39,861

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStop
nssv14407630Submitted genomicNC_000020.11:g.133
58679_13358745del6
6
GRCh38 (hg38)NC_000020.11Chr2013,358,67913,358,745
nssv14433206Submitted genomicNC_000020.11:g.133
58679_13358745del6
6
GRCh38 (hg38)NC_000020.11Chr2013,358,67913,358,745
nssv14407630RemappedPerfectNC_000020.10:g.133
39326_13339392del6
6
GRCh37.p13First PassNC_000020.10Chr2013,339,32613,339,392
nssv14433206RemappedPerfectNC_000020.10:g.133
39326_13339392del6
6
GRCh37.p13First PassNC_000020.10Chr2013,339,32613,339,392

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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