nsv3904553
- 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:2,449,619
- Description:GRCh37/hg19 9q22.32-22.33(chr9:97355862-99805480)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 5677 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 5677 SVs from 95 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3904553 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 94,593,580 | 97,043,198 |
| nsv3904553 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 97,355,862 | 99,805,480 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139768 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000445766.3, VCV000394717.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15139768 | Remapped | Perfect | NC_000009.12:g.(?_ 94593580)_(9704319 8_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 94,593,580 | 97,043,198 |
| nssv15139768 | Submitted genomic | NC_000009.11:g.(?_ 97355862)_(9980548 0_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 97,355,862 | 99,805,480 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139768 | GRCh37: NC_000009.11:g.(?_97355862)_(99805480_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000445766.3, VCV000394717.3 | 1 |