nsv4675322
- 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:16,600,900
- Description:GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)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: 40096 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 40090 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675322 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 106,976,961 | 123,577,860 |
| nsv4675322 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 106,617,406 | 123,217,914 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208150 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001005991.1, VCV000815014.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208150 | Remapped | Good | NC_000007.14:g.(?_ 106976961)_(123577 860_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 106,976,961 | 123,577,860 |
| nssv16208150 | Submitted genomic | NC_000007.13:g.(?_ 106617406)_(123217 914_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 106,617,406 | 123,217,914 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208150 | GRCh37: NC_000007.13:g.(?_106617406)_(123217914_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001005991.1, VCV000815014.1 | 1 |