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nsv3172088

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: No
  • Region Size:3,823
  • Description:Absence of a AluY 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: 125 SVs from 36 studies. See in: genome view    
Submitted genomic48,492,359-48,496,181Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrStartStop
nsv3172088Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000003.12Chr348,492,35948,496,181

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisOther Calls in this Sample and Study
nssv14409340alu deletionSAMN00001696Optical mapping, SequencingOptical mapping, Sequence alignment, de novo and local sequence assembly45,591

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrStartStop
nssv14409340Submitted genomicNC_000003.12:g.484
92359_48496181del3
822
GRCh38 (hg38)NC_000003.12Chr348,492,35948,496,181

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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