nsv6290897
- 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:10,328,737
- Description:GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)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: 43632 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 43675 SVs from 132 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290897 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 148,998,281 | 159,327,017 |
| nsv6290897 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 148,695,373 | 159,119,707 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956149 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001832910.1, VCV001340055.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956149 | Remapped | Good | NC_000007.14:g.(?_ 148998281)_(159327 017_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 148,998,281 | 159,327,017 |
| nssv17956149 | Submitted genomic | NC_000007.13:g.(?_ 148695373)_(159119 707_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 148,695,373 | 159,119,707 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956149 | GRCh37: NC_000007.13:g.(?_148695373)_(159119707_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001832910.1, VCV001340055.1 | 1 |