nsv5674221

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:9,119

Genome View

Select assembly:
Overlapping variant regions from other studies: 56 SVs from 2 studies. See in: genome view    
Submitted genomic6,468-15,586Question Mark
Submitted genomic6,468-15,586Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrStartStop
nsv5674221Submitted genomicGRCh38 (hg38)non-nuclearNC_012920.1ChrMT6,46815,586
nsv5674221Submitted genomicGRCh37 (hg19)Primary AssemblyNC_001807.4ChrMT6,46815,586

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv15129961deletionMultipleMultipleMitochondrial disease; Mitochondrial diseasesPathogenicClinVarRCV000495334.1, VCV000430675.1

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrStartStop
nssv15129961Submitted genomicNC_012920.1:g.6468
_15586del
GRCh38 (hg38)NC_012920.1ChrMT6,46815,586
nssv15129961Submitted genomicNC_001807.4:g.6468
_15586del
GRCh37 (hg19)NC_001807.4ChrMT6,46815,586

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv15129961GRCh37: NC_001807.4:g.6468_15586del, GRCh38: NC_012920.1:g.6468_15586deldeletiongermlineMitochondrial disease; Mitochondrial diseasesPathogenicClinVarRCV000495334.1, VCV000430675.1

No genotype data were submitted for this variant

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