nsv7095503
- 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:5,437
- Description:NC_000001.10:g.(?_213031795)_(213037231_?)del AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 122 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 124 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7095503 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 212,858,453 | 212,863,889 |
| nsv7095503 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 213,031,795 | 213,037,231 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18790830 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV003116682.2, VCV002425887.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18790830 | Remapped | Perfect | NC_000001.11:g.(?_ 212858453)_(212863 889_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 212,858,453 | 212,863,889 |
| nssv18790830 | Submitted genomic | NC_000001.10:g.(?_ 213031795)_(213037 231_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 213,031,795 | 213,037,231 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18790830 | GRCh37: NC_000001.10:g.(?_213031795)_(213037231_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV003116682.2, VCV002425887.2 |