nsv3896336
- 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:2,794,271
- Description:GRCh37/hg19 9q34.3(chr9:138222049-141018925)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: 13502 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 13418 SVs from 122 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3896336 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 135,330,203 | 138,124,473 |
| nsv3896336 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 138,222,049 | 141,018,925 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139813 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000446074.3, VCV000393947.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15139813 | Remapped | Good | NC_000009.12:g.(?_ 135330203)_(138124 473_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 135,330,203 | 138,124,473 |
| nssv15139813 | Submitted genomic | NC_000009.11:g.(?_ 138222049)_(141018 925_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 138,222,049 | 141,018,925 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139813 | GRCh37: NC_000009.11:g.(?_138222049)_(141018925_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000446074.3, VCV000393947.3 | 1 |