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nsv4449893

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:1,491,601

Genome View

Select assembly:
Overlapping variant regions from other studies: 9498 SVs from 114 studies. See in: genome view    
Remapped(Score: Perfect):574,055-2,065,655Question Mark
Overlapping variant regions from other studies: 9498 SVs from 114 studies. See in: genome view    
Submitted genomic624,055-2,115,656Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv4449893RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000016.10Chr16574,0552,065,655
nsv4449893Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000016.9Chr16624,0552,115,656

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv15771714deletionMultipleMultipleTUBEROUS SCLEROSIS 2; TSC2; Tuberous Sclerosis Complex; Tuberous sclerosis 2; Tuberous sclerosis complexPathogenicClinVarRCV000811345.1, VCV000655214.1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15771714RemappedPerfectNC_000016.10:g.(?_
574055)_(2065655_?
)del
GRCh38.p12First PassNC_000016.10Chr16574,0552,065,655
nssv15771714Submitted genomicNC_000016.9:g.(?_6
24055)_(2115656_?)
del
GRCh37 (hg19)NC_000016.9Chr16624,0552,115,656

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv15771714GRCh37: NC_000016.9:g.(?_624055)_(2115656_?)deldeletiongermlineTUBEROUS SCLEROSIS 2; TSC2; Tuberous Sclerosis Complex; Tuberous sclerosis 2; Tuberous sclerosis complexPathogenicClinVarRCV000811345.1, VCV000655214.1

No genotype data were submitted for this variant

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