nsv4728693
- 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:1,187,732
- Description:GRCh37/hg19 1p36.33(chr1:849466-2033256)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: 8462 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 8455 SVs from 118 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728693 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 914,086 | 2,101,817 |
| nsv4728693 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 849,466 | 2,033,256 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254639 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001260111.1, VCV000980935.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254639 | Remapped | Good | NC_000001.11:g.(?_ 914086)_(2101817_? )del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 914,086 | 2,101,817 |
| nssv16254639 | Submitted genomic | NC_000001.10:g.(?_ 849466)_(2033256_? )del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 849,466 | 2,033,256 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254639 | GRCh37: NC_000001.10:g.(?_849466)_(2033256_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001260111.1, VCV000980935.1 | 1 |