nsv3889718
- 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:5,885,021
- Description:GRCh37/hg19 1q43-44(chr1:243103401-249119318)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: 22974 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 22899 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3889718 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 242,940,099 | 248,825,119 |
| nsv3889718 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 243,103,401 | 249,119,318 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15124424 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000240522.2, VCV000253547.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15124424 | Remapped | Good | NC_000001.11:g.(?_ 242940099)_(248825 119_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 242,940,099 | 248,825,119 |
| nssv15124424 | Submitted genomic | NC_000001.10:g.(?_ 243103401)_(249119 318_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 243,103,401 | 249,119,318 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15124424 | GRCh37: NC_000001.10:g.(?_243103401)_(249119318_?)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV000240522.2, VCV000253547.2 | 1 |