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nsv3898948

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:16,847,052
  • Description:GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 AND not provided

Genome View

Select assembly:
Overlapping variant regions from other studies: 52043 SVs from 144 studies. See in: genome view    
Remapped(Score: Good):230,615-17,077,666Question Mark
Overlapping variant regions from other studies: 51696 SVs from 144 studies. See in: genome view    
Submitted genomic230,615-17,099,213Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv3898948RemappedGoodGRCh38.p12Primary AssemblyFirst PassNC_000011.10Chr11230,61517,077,666
nsv3898948Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000011.9Chr11230,61517,099,213

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15153879copy number gainMultipleMultiplenot providedPathogenicClinVarRCV000683372.1, VCV000563883.13

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15153879RemappedGoodNC_000011.10:g.(?_
230615)_(17077666_
?)dup
GRCh38.p12First PassNC_000011.10Chr11230,61517,077,666
nssv15153879Submitted genomicNC_000011.9:g.(?_2
30615)_(17099213_?
)dup
GRCh37 (hg19)NC_000011.9Chr11230,61517,099,213

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15153879GRCh37: NC_000011.9:g.(?_230615)_(17099213_?)dupcopy number gaingermlinenot providedPathogenicClinVarRCV000683372.1, VCV000563883.13

No genotype data were submitted for this variant

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