nsv3920285
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:15,302,859
- Description:NCBI36/hg18 10p15.3-13(chr10:106418-15455341)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: 52700 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 52643 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 13219 SVs from 35 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3920285 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 70,478 | 15,373,336 |
| nsv3920285 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 116,418 | 15,415,335 |
| nsv3920285 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 106,418 | 15,455,341 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15150786 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000512314.2, VCV000443737.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15150786 | Remapped | Good | NC_000010.11:g.(?_ 70478)_(15373336_? )dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 70,478 | 15,373,336 |
| nssv15150786 | Remapped | Good | NC_000010.10:g.(?_ 116418)_(15415335_ ?)dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 116,418 | 15,415,335 |
| nssv15150786 | Submitted genomic | NC_000010.9:g.(?_1 06418)_(15455341_? )dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 106,418 | 15,455,341 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15150786 | NCBI36: NC_000010.9:g.(?_106418)_(15455341_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000512314.2, VCV000443737.2 | 3 |