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nsv3899934

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:1,766
  • Description:GRCh37/hg19 12q24.21(chr12:116526663-116528428)x1 AND not provided

Genome View

Select assembly:
Overlapping variant regions from other studies: 115 SVs from 37 studies. See in: genome view    
Remapped(Score: Perfect):116,088,858-116,090,623Question Mark
Overlapping variant regions from other studies: 115 SVs from 37 studies. See in: genome view    
Submitted genomic116,526,663-116,528,428Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv3899934RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000012.12Chr12116,088,858116,090,623
nsv3899934Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000012.11Chr12116,526,663116,528,428

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15172678copy number lossMultipleMultiplenot providedBenignClinVarRCV000750594.2, VCV000613958.21

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15172678RemappedPerfectNC_000012.12:g.(?_
116088858)_(116090
623_?)del
GRCh38.p12First PassNC_000012.12Chr12116,088,858116,090,623
nssv15172678Submitted genomicNC_000012.11:g.(?_
116526663)_(116528
428_?)del
GRCh37 (hg19)NC_000012.11Chr12116,526,663116,528,428

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15172678GRCh37: NC_000012.11:g.(?_116526663)_(116528428_?)delcopy number lossunknownnot providedBenignClinVarRCV000750594.2, VCV000613958.21

No genotype data were submitted for this variant

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