nsv4455928
- 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:10,855,133
- Description:GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1 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: 27944 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 27940 SVs from 125 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4455928 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 68,359,745 | 79,214,877 |
| nsv4455928 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 70,974,661 | 81,829,792 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15772031 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000846367.2, VCV000685659.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15772031 | Remapped | Perfect | NC_000009.12:g.(?_ 68359745)_(7921487 7_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 68,359,745 | 79,214,877 |
| nssv15772031 | Submitted genomic | NC_000009.11:g.(?_ 70974661)_(8182979 2_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 70,974,661 | 81,829,792 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15772031 | GRCh37: NC_000009.11:g.(?_70974661)_(81829792_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000846367.2, VCV000685659.2 | 1 |