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nsv6290826

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:573,209
  • Description:GRCh37/hg19 5q14.3(chr5:89720318-90293526)x3 AND not provided

Genome View

Select assembly:
Overlapping variant regions from other studies: 1348 SVs from 75 studies. See in: genome view    
Remapped(Score: Perfect):90,424,501-90,997,709Question Mark
Overlapping variant regions from other studies: 1348 SVs from 75 studies. See in: genome view    
Submitted genomic89,720,318-90,293,526Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv6290826RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr590,424,50190,997,709
nsv6290826Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr589,720,31890,293,526

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv17957294copy number gainMultipleMultiplenot providedUncertain significanceClinVarRCV001836503.1, VCV001340201.13

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv17957294RemappedPerfectNC_000005.10:g.(?_
90424501)_(9099770
9_?)dup
GRCh38.p12First PassNC_000005.10Chr590,424,50190,997,709
nssv17957294Submitted genomicNC_000005.9:g.(?_8
9720318)_(90293526
_?)dup
GRCh37 (hg19)NC_000005.9Chr589,720,31890,293,526

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv17957294GRCh37: NC_000005.9:g.(?_89720318)_(90293526_?)dupcopy number gaingermlinenot providedUncertain significanceClinVarRCV001836503.1, VCV001340201.13

No genotype data were submitted for this variant

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