nsv7098993
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:23,542
- Description:NC_000002.12:g.43986415_44009956del AND Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 203 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 203 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7098993 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 43,986,415 | 44,009,956 | ||
| nsv7098993 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 44,213,554 | 44,237,095 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18792874 | deletion | Multiple | Multiple | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5; MC4DN5; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV003225668.1, VCV002500756.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18792874 | Submitted genomic | NC_000002.12:g.439 86415_44009956del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 43,986,415 | 44,009,956 | ||
| nssv18792874 | Remapped | Perfect | NC_000002.11:g.442 13554_44237095del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 44,213,554 | 44,237,095 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18792874 | GRCh38: NC_000002.12:g.43986415_44009956del | deletion | paternal | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5; MC4DN5; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV003225668.1, VCV002500756.1 |