nsv4675871
- 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:1,666,227
- Description:
GRCh37/hg19 7p22.3(chr7:44935-1750797)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 12238 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 12279 SVs from 122 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675871 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 44,935 | 1,711,161 |
| nsv4675871 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 44,935 | 1,750,797 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16209032 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001007408.1, VCV000816483.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16209032 | Remapped | Good | NC_000007.14:g.(?_ 44935)_(1711161_?) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 44,935 | 1,711,161 |
| nssv16209032 | Submitted genomic | NC_000007.13:g.(?_ 44935)_(1750797_?) del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 44,935 | 1,750,797 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16209032 | GRCh37: NC_000007.13:g.(?_44935)_(1750797_?)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV001007408.1, VCV000816483.1 | 1 |