nsv1047584
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:147,446
- Publication(s):Coe et al. 2014
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2829 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 2831 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 1580 SVs from 36 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1047584 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 20,364,686 | 20,512,131 |
| nsv1047584 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 20,569,939 | 20,717,374 |
| nsv1047584 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 18,829,953 | 18,977,388 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3537647 | copy number loss | SNP array | Probe signal intensity |
| nssv3537648 | copy number gain | SNP array | Probe signal intensity |
| nssv3713798 | copy number loss | SNP array | Probe signal intensity |
| nssv3713799 | copy number loss | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3537647 | Remapped | Good | NC_000015.10:g.(?_ 20364686)_(2051213 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,364,686 | 20,512,131 |
| nssv3537648 | Remapped | Good | NC_000015.10:g.(?_ 20364686)_(2051213 1_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,364,686 | 20,512,131 |
| nssv3713798 | Remapped | Good | NC_000015.10:g.(?_ 20364686)_(2051213 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,364,686 | 20,512,131 |
| nssv3713799 | Remapped | Good | NC_000015.10:g.(?_ 20364686)_(2051213 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,364,686 | 20,512,131 |
| nssv3537647 | Remapped | Perfect | NC_000015.9:g.(?_2 0569939)_(20717374 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,569,939 | 20,717,374 |
| nssv3537648 | Remapped | Perfect | NC_000015.9:g.(?_2 0569939)_(20717374 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,569,939 | 20,717,374 |
| nssv3713798 | Remapped | Perfect | NC_000015.9:g.(?_2 0569939)_(20717374 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,569,939 | 20,717,374 |
| nssv3713799 | Remapped | Perfect | NC_000015.9:g.(?_2 0569939)_(20717374 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,569,939 | 20,717,374 |
| nssv3537647 | Submitted genomic | NC_000015.8:g.(?_1 8829953)_(18977388 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,829,953 | 18,977,388 | ||
| nssv3537648 | Submitted genomic | NC_000015.8:g.(?_1 8829953)_(18977388 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,829,953 | 18,977,388 | ||
| nssv3713798 | Submitted genomic | NC_000015.8:g.(?_1 8829953)_(18977388 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,829,953 | 18,977,388 | ||
| nssv3713799 | Submitted genomic | NC_000015.8:g.(?_1 8829953)_(18977388 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,829,953 | 18,977,388 |