nsv4685734
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:27,644
- Description:GRCh37/hg19 6q16.1(chr6:99347158-99374801) AND Mitochondrial DNA depletion syndrome 13
- Publication(s):Almannai et al. 2017, El-Hattab et al. 2018, Yuan et al. 2020
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 107 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 107 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4685734 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 98,899,282 | 98,926,925 |
| nsv4685734 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 99,347,158 | 99,374,801 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16216521 | copy number loss | Multiple | Multiple | FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome; MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); MTDPS13; Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type); Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | Pathogenic | ClinVar | RCV001195145.1, VCV000915991.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16216521 | Remapped | Perfect | NC_000006.12:g.(?_ 98899282)_(9892692 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 98,899,282 | 98,926,925 |
| nssv16216521 | Submitted genomic | NC_000006.11:g.(?_ 99347158)_(9937480 1_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 99,347,158 | 99,374,801 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16216521 | GRCh37: NC_000006.11:g.(?_99347158)_(99374801_?)del | copy number loss | inherited | FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome; MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); MTDPS13; Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type); Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | Pathogenic | ClinVar | RCV001195145.1, VCV000915991.1 |