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nsv5673945

  • Variant Calls:2
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:1,155,050
  • Description:
    See descriptions for individual calls in download files

Genome View

Select assembly:
Overlapping variant regions from other studies: 2560 SVs from 84 studies. See in: genome view    
Remapped(Score: Perfect):132,129,262-133,284,311Question Mark
Overlapping variant regions from other studies: 2561 SVs from 84 studies. See in: genome view    
Submitted genomic133,141,509-134,296,554Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv5673945RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000008.11Chr8132,129,262133,284,311
nsv5673945Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000008.10Chr8133,141,509134,296,554

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17172724deletionMultipleMultipleBenign familial neonatal epilepsy; Benign familial neonatal seizures; Seizures, benign familial neonatalPathogenicClinVarRCV001383836.4, VCV001071384.4
nssv17975114duplicationMultipleMultipleBenign familial neonatal epilepsy; Benign familial neonatal seizures; Seizures, benign familial neonatalUncertain significanceClinVarRCV001938899.3, VCV001429361.3

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv17172724RemappedPerfectNC_000008.11:g.(?_
132129262)_(133284
311_?)del
GRCh38.p12First PassNC_000008.11Chr8132,129,262133,284,311
nssv17975114RemappedPerfectNC_000008.11:g.(?_
132129262)_(133284
311_?)dup
GRCh38.p12First PassNC_000008.11Chr8132,129,262133,284,311
nssv17172724Submitted genomicNC_000008.10:g.(?_
133141509)_(134296
554_?)del
GRCh37 (hg19)NC_000008.10Chr8133,141,509134,296,554
nssv17975114Submitted genomicNC_000008.10:g.(?_
133141509)_(134296
554_?)dup
GRCh37 (hg19)NC_000008.10Chr8133,141,509134,296,554

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17172724GRCh37: NC_000008.10:g.(?_133141509)_(134296554_?)deldeletiongermlineBenign familial neonatal epilepsy; Benign familial neonatal seizures; Seizures, benign familial neonatalPathogenicClinVarRCV001383836.4, VCV001071384.4
nssv17975114GRCh37: NC_000008.10:g.(?_133141509)_(134296554_?)dupduplicationgermlineBenign familial neonatal epilepsy; Benign familial neonatal seizures; Seizures, benign familial neonatalUncertain significanceClinVarRCV001938899.3, VCV001429361.3

No genotype data were submitted for this variant

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