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nsv4729386

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:327,571
  • Description:GRCh37/hg19 13q14.2(chr13:50179353-50506923)x3 AND not provided

Genome View

Select assembly:
Overlapping variant regions from other studies: 1206 SVs from 76 studies. See in: genome view    
Remapped(Score: Perfect):49,605,217-49,932,787Question Mark
Overlapping variant regions from other studies: 1206 SVs from 76 studies. See in: genome view    
Submitted genomic50,179,353-50,506,923Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv4729386RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000013.11Chr1349,605,21749,932,787
nsv4729386Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000013.10Chr1350,179,35350,506,923

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv16254879copy number gainMultipleMultiplenot providedPathogenicClinVarRCV001258547.1, VCV000979371.13

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv16254879RemappedPerfectNC_000013.11:g.(?_
49605217)_(4993278
7_?)dup
GRCh38.p12First PassNC_000013.11Chr1349,605,21749,932,787
nssv16254879Submitted genomicNC_000013.10:g.(?_
50179353)_(5050692
3_?)dup
GRCh37 (hg19)NC_000013.10Chr1350,179,35350,506,923

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv16254879GRCh37: NC_000013.10:g.(?_50179353)_(50506923_?)dupcopy number gaingermlinenot providedPathogenicClinVarRCV001258547.1, VCV000979371.13

No genotype data were submitted for this variant

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