nsv6636271
- 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:5,589,912
- Description:GRCh37/hg19 7q21.2-22.1(chr7:92721627-98311537)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: 12985 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 12985 SVs from 123 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636271 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 93,092,314 | 98,682,225 |
| nsv6636271 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 92,721,627 | 98,311,537 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330238 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002474498.1, VCV001808653.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330238 | Remapped | Perfect | NC_000007.14:g.(?_ 93092314)_(9868222 5_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 93,092,314 | 98,682,225 |
| nssv18330238 | Submitted genomic | NC_000007.13:g.(?_ 92721627)_(9831153 7_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 92,721,627 | 98,311,537 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330238 | GRCh37: NC_000007.13:g.(?_92721627)_(98311537_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002474498.1, VCV001808653.1 | 1 |