nsv530498

  • Variant Calls:1
  • Validation:Yes
  • Clinical Assertions: Yes
  • Region Size:1,051,729

Links to Other Resources

Genome View

Select assembly:
Overlapping variant regions from other studies: 1525 SVs from 66 studies. See in: genome view    
Remapped(Score: Perfect):94,169,644-95,221,372Question Mark
Overlapping variant regions from other studies: 1525 SVs from 66 studies. See in: genome view    
Remapped(Score: Perfect):93,505,349-94,557,076Question Mark
Overlapping variant regions from other studies: 592 SVs from 30 studies. See in: genome view    
Submitted genomic93,531,105-94,582,832Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv530498RemappedPerfectGRCh38 (hg38)Primary AssemblyFirst PassNC_000005.10Chr594,169,64495,221,372
nsv530498RemappedPerfectGRCh37 (hg19)Primary AssemblyFirst PassNC_000005.9Chr593,505,34994,557,076
nsv530498Submitted genomicNCBI36 (hg18)NC_000005.8Chr593,531,10594,582,832

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisSubject PhenotypeClinicalClinVar IDClinVar Curation LevelCopy numberOther Calls in this Sample and Study
nssv706402copy number gainABC02128Oligo aCGHProbe signal intensityTetralogy of FallotUncertain significanceSCV000175539classified by single submitter3nssv706400, nssv706401

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nssv706402RemappedPerfectNC_000005.10:g.(?_
94169644)_(9522137
2_?)dup
GRCh38 (hg38)Primary AssemblyFirst PassNC_000005.10Chr594,169,64495,221,372
nssv706402RemappedPerfectNC_000005.9:g.(?_9
3505349)_(94557076
_?)dup
GRCh37 (hg19)Primary AssemblyFirst PassNC_000005.9Chr593,505,34994,557,076
nssv706402Submitted genomicNC_000005.8:g.(?_9
3531105)_(94582832
_?)dup
NCBI36 (hg18)NC_000005.8Chr593,531,10594,582,832

Validation Information

Variant Call IDExperiment IDSample IDMethodAnalysisResult
nssv70640262ABC02128FISHManual observationPass

Clinical Assertions

Variant Call IDSample IDClinVar IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationClinVar Curation LevelGenderCopy numberOther Calls in this Sample and Study
nssv706402ABC02128SCV000175539NC_000005.8:g.(?_93531105)_(94582832_?)dupcopy number gainNot testedTetralogy of FallotUncertain significanceclassified by single submitterFemale3nssv706400, nssv706401

No genotype data were submitted for this variant

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