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nsv3891112

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:8,404
  • Description:GRCh37/hg19 19p13.3(chr19:517336-525739)x1 AND not provided

Genome View

Select assembly:
Overlapping variant regions from other studies: 456 SVs from 60 studies. See in: genome view    
Remapped(Score: Perfect):517,336-525,739Question Mark
Overlapping variant regions from other studies: 456 SVs from 60 studies. See in: genome view    
Submitted genomic517,336-525,739Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv3891112RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000019.10Chr19517,336525,739
nsv3891112Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000019.9Chr19517,336525,739

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15159971copy number lossMultipleMultiplenot providedBenignClinVarRCV000739931.2, VCV000603295.21

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15159971RemappedPerfectNC_000019.10:g.(?_
517336)_(525739_?)
del
GRCh38.p12First PassNC_000019.10Chr19517,336525,739
nssv15159971Submitted genomicNC_000019.9:g.(?_5
17336)_(525739_?)d
el
GRCh37 (hg19)NC_000019.9Chr19517,336525,739

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15159971GRCh37: NC_000019.9:g.(?_517336)_(525739_?)delcopy number lossunknownnot providedBenignClinVarRCV000739931.2, VCV000603295.21

No genotype data were submitted for this variant

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