nsv6290270
- 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:151,174
- Description:GRCh37/hg19 9q33.1(chr9:119311659-119462832) AND Cerebral palsy
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 485 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 485 SVs from 56 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290270 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 116,549,380 | 116,700,553 |
| nsv6290270 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 119,311,659 | 119,462,832 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17955843 | copy number loss | Multiple | Multiple | Cerebral palsy; Cerebral palsy | risk factor | ClinVar | RCV001796567.1, VCV001172814.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955843 | Remapped | Perfect | NC_000009.12:g.(?_ 116549380)_(116700 553_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 116,549,380 | 116,700,553 |
| nssv17955843 | Submitted genomic | NC_000009.11:g.(?_ 119311659)_(119462 832_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 119,311,659 | 119,462,832 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17955843 | GRCh37: NC_000009.11:g.(?_119311659)_(119462832_?)del | copy number loss | unknown | Cerebral palsy; Cerebral palsy | risk factor | ClinVar | RCV001796567.1, VCV001172814.1 |