nsv6311770
- 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:13,099,233
- Description:NC_000003.11:g.(?_120365818)_(133465047_?)del AND Alkaptonuria
- Publication(s):Introne et al. 2003
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 31393 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 31390 SVs from 129 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6311770 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 120,646,971 | 133,746,203 |
| nsv6311770 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 120,365,818 | 133,465,047 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17973750 | deletion | Multiple | Multiple | ALKAPTONURIA; AKU; Alkaptonuria; Alkaptonuria; Alkaptonuria | Pathogenic | ClinVar | RCV002035459.3, VCV001452099.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17973750 | Remapped | Perfect | NC_000003.12:g.(?_ 120646971)_(133746 203_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 120,646,971 | 133,746,203 |
| nssv17973750 | Submitted genomic | NC_000003.11:g.(?_ 120365818)_(133465 047_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 120,365,818 | 133,465,047 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17973750 | GRCh37: NC_000003.11:g.(?_120365818)_(133465047_?)del | deletion | germline | ALKAPTONURIA; AKU; Alkaptonuria; Alkaptonuria; Alkaptonuria | Pathogenic | ClinVar | RCV002035459.3, VCV001452099.3 |