nsv4729815
- 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:812,955
- Description:GRCh37/hg19 21q21.1(chr21:18132804-18945757)x3 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: 2833 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 2835 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729815 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 16,760,485 | 17,573,439 |
| nsv4729815 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 18,132,804 | 18,945,757 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254083 | copy number gain | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV001258922.1, VCV000979746.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254083 | Remapped | Perfect | NC_000021.9:g.(?_1 6760485)_(17573439 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 16,760,485 | 17,573,439 |
| nssv16254083 | Submitted genomic | NC_000021.8:g.(?_1 8132804)_(18945757 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 18,132,804 | 18,945,757 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254083 | GRCh37: NC_000021.8:g.(?_18132804)_(18945757_?)dup | copy number gain | germline | not provided | Likely benign | ClinVar | RCV001258922.1, VCV000979746.1 | 3 |