nsv6290204
- 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:233,308
- Description:GRCh37/hg19 1q21.1(chr1:145382601-145616000) 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: 1065 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1016 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290204 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 145,819,092 | 146,052,399 |
| nsv6290204 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 145,382,601 | 145,616,000 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17955836 | copy number loss | Multiple | Multiple | Cerebral palsy; Cerebral palsy | risk factor | ClinVar | RCV001796582.1, VCV001172829.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955836 | Remapped | Good | NC_000001.11:g.(?_ 145819092)_(146052 399_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,819,092 | 146,052,399 |
| nssv17955836 | Submitted genomic | NC_000001.10:g.(?_ 145382601)_(145616 000_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 145,382,601 | 145,616,000 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17955836 | GRCh37: NC_000001.10:g.(?_145382601)_(145616000_?)del | copy number loss | unknown | Cerebral palsy; Cerebral palsy | risk factor | ClinVar | RCV001796582.1, VCV001172829.1 |