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nsv3883736

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:278,316
  • Description:GRCh37/hg19 1q42.2(chr1:233688767-233967082)x1 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 818 SVs from 73 studies. See in: genome view    
Remapped(Score: Perfect):233,553,021-233,831,336Question Mark
Overlapping variant regions from other studies: 819 SVs from 73 studies. See in: genome view    
Submitted genomic233,688,767-233,967,082Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv3883736RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000001.11Chr1233,553,021233,831,336
nsv3883736Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000001.10Chr1233,688,767233,967,082

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15150655copy number lossMultipleMultipleSee casesLikely benignClinVarRCV000511624.2, VCV000443879.21

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15150655RemappedPerfectNC_000001.11:g.(?_
233553021)_(233831
336_?)del
GRCh38.p12First PassNC_000001.11Chr1233,553,021233,831,336
nssv15150655Submitted genomicNC_000001.10:g.(?_
233688767)_(233967
082_?)del
GRCh37 (hg19)NC_000001.10Chr1233,688,767233,967,082

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15150655GRCh37: NC_000001.10:g.(?_233688767)_(233967082_?)delcopy number losspaternalSee casesLikely benignClinVarRCV000511624.2, VCV000443879.21

No genotype data were submitted for this variant

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