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nsv4682518

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:1,926,924
  • Description:NC_000016.9:g.(?_624055)_(2550979_?)dup AND multiple conditions

Genome View

Select assembly:
Overlapping variant regions from other studies: 11044 SVs from 115 studies. See in: genome view    
Remapped(Score: Perfect):574,055-2,500,978Question Mark
Overlapping variant regions from other studies: 11044 SVs from 115 studies. See in: genome view    
Submitted genomic624,055-2,550,979Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv4682518RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000016.10Chr16574,0552,500,978
nsv4682518Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000016.9Chr16624,0552,550,979

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv16214830duplicationMultipleMultipleEPILEPSY, IDIOPATHIC GENERALIZED; EIG; Epilepsy, idiopathic generalized; HYPERALDOSTERONISM, FAMILIAL, TYPE IV; HALD4; Hyperaldosteronism, familial, type IV; Idiopathic generalized epilepsyUncertain significanceClinVarRCV001033790.1, VCV000833344.1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv16214830RemappedPerfectNC_000016.10:g.(?_
574055)_(2500978_?
)dup
GRCh38.p12First PassNC_000016.10Chr16574,0552,500,978
nssv16214830Submitted genomicNC_000016.9:g.(?_6
24055)_(2550979_?)
dup
GRCh37 (hg19)NC_000016.9Chr16624,0552,550,979

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv16214830GRCh37: NC_000016.9:g.(?_624055)_(2550979_?)dupduplicationgermlineEPILEPSY, IDIOPATHIC GENERALIZED; EIG; Epilepsy, idiopathic generalized; HYPERALDOSTERONISM, FAMILIAL, TYPE IV; HALD4; Hyperaldosteronism, familial, type IV; Idiopathic generalized epilepsyUncertain significanceClinVarRCV001033790.1, VCV000833344.1

No genotype data were submitted for this variant

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