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nsv4456083

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:1,229,508
  • Description:GRCh37/hg19 8q24.3(chr8:142988974-144218537)x3 AND not provided

Genome View

Select assembly:
Overlapping variant regions from other studies: 5117 SVs from 105 studies. See in: genome view    
Remapped(Score: Good):141,907,613-143,137,120Question Mark
Overlapping variant regions from other studies: 5145 SVs from 105 studies. See in: genome view    
Submitted genomic142,988,974-144,218,537Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv4456083RemappedGoodGRCh38.p12Primary AssemblyFirst PassNC_000008.11Chr8141,907,613143,137,120
nsv4456083Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000008.10Chr8142,988,974144,218,537

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15771966copy number gainMultipleMultiplenot providedUncertain significanceClinVarRCV000846118.2, VCV000685410.23

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15771966RemappedGoodNC_000008.11:g.(?_
141907613)_(143137
120_?)dup
GRCh38.p12First PassNC_000008.11Chr8141,907,613143,137,120
nssv15771966Submitted genomicNC_000008.10:g.(?_
142988974)_(144218
537_?)dup
GRCh37 (hg19)NC_000008.10Chr8142,988,974144,218,537

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15771966GRCh37: NC_000008.10:g.(?_142988974)_(144218537_?)dupcopy number gainunknownnot providedUncertain significanceClinVarRCV000846118.2, VCV000685410.23

No genotype data were submitted for this variant

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