nsv7093414
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,337,236
- Description:GRCh38/hg38 9q34.3(chr9:134962336-137240181)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: 10949 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 10865 SVs from 121 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv7093414 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 134,932,722 | 134,962,336 | 137,240,181 | 137,269,957 | ||
| nsv7093414 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 137,824,568 | 137,824,568 | 140,164,409 | 140,164,409 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18786422 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV002640756.2, VCV002203758.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv18786422 | Submitted genomic | NC_000009.12:g.(13 4932722_134962336) _(137240181_137269 957)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 134,932,722 | 134,962,336 | 137,240,181 | 137,269,957 | ||
| nssv18786422 | Remapped | Good | NC_000009.11:g.(13 7824568_137824568) _(140164409_140164 409)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 137,824,568 | 137,824,568 | 140,164,409 | 140,164,409 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18786422 | GRCh38: NC_000009.12:g.(134932722_134962336)_(137240181_137269957)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV002640756.2, VCV002203758.1 | 1 |