nsv4675244
- 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:15,069,371
- Description:GRCh37/hg19 13q21.33-31.1(chr13:71502357-86571730)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: 39388 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 39390 SVs from 128 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675244 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 70,928,225 | 85,997,595 |
| nsv4675244 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 71,502,357 | 86,571,730 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208368 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006577.1, VCV000815600.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208368 | Remapped | Perfect | NC_000013.11:g.(?_ 70928225)_(8599759 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 70,928,225 | 85,997,595 |
| nssv16208368 | Submitted genomic | NC_000013.10:g.(?_ 71502357)_(8657173 0_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 71,502,357 | 86,571,730 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208368 | GRCh37: NC_000013.10:g.(?_71502357)_(86571730_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001006577.1, VCV000815600.1 | 1 |