nsv6290731
- 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:3,761,307
- Description:GRCh37/hg19 8q13.1-13.2(chr8:66045954-69807260)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 8609 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 8609 SVs from 107 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290731 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 65,133,719 | 68,895,025 |
| nsv6290731 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 66,045,954 | 69,807,260 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956400 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001836560.1, VCV001340821.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956400 | Remapped | Perfect | NC_000008.11:g.(?_ 65133719)_(6889502 5_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 65,133,719 | 68,895,025 |
| nssv17956400 | Submitted genomic | NC_000008.10:g.(?_ 66045954)_(6980726 0_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 66,045,954 | 69,807,260 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956400 | GRCh37: NC_000008.10:g.(?_66045954)_(69807260_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001836560.1, VCV001340821.1 | 1 |