nsv3886551
- 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:23,832,394
- Description:GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)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: 55447 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 55450 SVs from 131 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3886551 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 63,855,593 | 87,687,986 |
| nsv3886551 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 64,321,264 | 88,153,669 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15143555 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000511392.2, VCV000442708.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15143555 | Remapped | Perfect | NC_000001.11:g.(?_ 63855593)_(8768798 6_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 63,855,593 | 87,687,986 |
| nssv15143555 | Submitted genomic | NC_000001.10:g.(?_ 64321264)_(8815366 9_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 64,321,264 | 88,153,669 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15143555 | GRCh37: NC_000001.10:g.(?_64321264)_(88153669_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000511392.2, VCV000442708.2 | 1 |