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nsv3883608

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:2,114,807
  • Description:GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 5081 SVs from 112 studies. See in: genome view    
Remapped(Score: Perfect):34,364,686-36,479,492Question Mark
Overlapping variant regions from other studies: 5081 SVs from 112 studies. See in: genome view    
Submitted genomic34,830,287-36,945,093Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv3883608RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000001.11Chr134,364,68636,479,492
nsv3883608Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000001.10Chr134,830,28736,945,093

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15149678copy number lossMultipleMultipleSee casesPathogenicClinVarRCV000448022.3, VCV000395434.31

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15149678RemappedPerfectNC_000001.11:g.(?_
34364686)_(3647949
2_?)del
GRCh38.p12First PassNC_000001.11Chr134,364,68636,479,492
nssv15149678Submitted genomicNC_000001.10:g.(?_
34830287)_(3694509
3_?)del
GRCh37 (hg19)NC_000001.10Chr134,830,28736,945,093

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15149678GRCh37: NC_000001.10:g.(?_34830287)_(36945093_?)delcopy number lossnot providedSee casesPathogenicClinVarRCV000448022.3, VCV000395434.31

No genotype data were submitted for this variant

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