nsv3904390
- 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:49,699,509
- Description:GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 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: 141504 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 138634 SVs from 142 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3904390 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 54,086 | 49,753,594 |
| nsv3904390 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 100,026 | 50,961,640 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161671 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000510893.2, VCV000443260.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15161671 | Remapped | Good | NC_000010.11:g.(?_ 54086)_(49753594_? )dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 54,086 | 49,753,594 |
| nssv15161671 | Submitted genomic | NC_000010.10:g.(?_ 100026)_(50961640_ ?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 100,026 | 50,961,640 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161671 | GRCh37: NC_000010.10:g.(?_100026)_(50961640_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000510893.2, VCV000443260.2 | 3 |