nsv4685954
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:4,961
- Description:
NC_012920.1:m.8480_13440del AND Pearson syndrome - Publication(s):Goldstein et al. 2003, Parikh et al. 2017
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 27 SVs from 2 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv4685954 | Submitted genomic | GRCh38 (hg38) | non-nuclear | NC_012920.1 | ChrMT | 8,480 | 13,440 |
| nsv4685954 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_001807.4 | ChrMT | 8,480 | 13,440 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15755736 | deletion | Multiple | Multiple | Mitochondrial DNA Deletion Syndromes; PEARSON MARROW-PANCREAS SYNDROME; Pearson syndrome; Pearson syndrome | Pathogenic | ClinVar | RCV000790614.2, VCV000638146.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15755736 | Submitted genomic | NC_012920.1:g.8480 _13440del | GRCh38 (hg38) | NC_012920.1 | ChrMT | 8,480 | 13,440 |
| nssv15755736 | Submitted genomic | NC_001807.4:g.8480 _13440del | GRCh37 (hg19) | NC_001807.4 | ChrMT | 8,480 | 13,440 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15755736 | GRCh37: NC_001807.4:g.8480_13440del, GRCh38: NC_012920.1:g.8480_13440del | deletion | de novo | Mitochondrial DNA Deletion Syndromes; PEARSON MARROW-PANCREAS SYNDROME; Pearson syndrome; Pearson syndrome | Pathogenic | ClinVar | RCV000790614.2, VCV000638146.2 |