nsv482024

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:155,752

Links to Other Resources

Genome View

Select assembly:
Overlapping variant regions from other studies: 827 SVs from 66 studies. See in: genome view    
Remapped(Score: Perfect):162,178,483-162,334,234Question Mark
Overlapping variant regions from other studies: 827 SVs from 66 studies. See in: genome view    
Remapped(Score: Perfect):162,599,515-162,755,266Question Mark
Overlapping variant regions from other studies: 493 SVs from 28 studies. See in: genome view    
Submitted genomic162,519,505-162,675,256Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStop
nsv482024RemappedPerfectGRCh38 (hg38)Primary AssemblyFirst PassNC_000006.12Chr6162,178,483162,334,234
nsv482024RemappedPerfectGRCh37 (hg19)Primary AssemblyFirst PassNC_000006.11Chr6162,599,515162,755,266
nsv482024Submitted genomicNCBI36 (hg18)NC_000006.10Chr6162,519,505162,675,256

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical
nssv650290deletionOligo aCGH, SequencingProbe signal intensity, Sequence alignmentParkinsonian DisordersPathogenic

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyAssembly UnitReciprocitySequence IDChrStartStop
nssv650290RemappedPerfectNC_000006.12:g.162
178483_162334234de
l
GRCh38 (hg38)Primary AssemblyFirst PassNC_000006.12Chr6162,178,483162,334,234
nssv650290RemappedPerfectNC_000006.11:g.162
599515_162755266de
l
GRCh37 (hg19)Primary AssemblyFirst PassNC_000006.11Chr6162,599,515162,755,266
nssv650290Submitted genomicNC_000006.10:g.162
519505_162675256de
l
NCBI36 (hg18)NC_000006.10Chr6162,519,505162,675,256

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeSubject PhenotypeClinical Interpretation
nssv650290NC_000006.10:g.162519505_162675256deldeletionParkinsonian DisordersPathogenic

No genotype data were submitted for this variant

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