nsv1192905
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:64,007
- Publication(s):Polyak et al. 2015
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: 1532 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 453 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 1840 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 605 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1192905 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 22,990,524 | 23,051,531 |
| nsv1192905 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 87,526 | 151,532 |
| nsv1192905 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 22,821,537 | 22,882,544 |
| nsv1192905 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 20,372,901 | 20,433,985 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7459990 | copy number loss | 52483 | Oligo aCGH | Probe signal intensity | nssv7464771, nssv7475054 |
| nssv7460938 | copy number gain | 55377 | Oligo aCGH | Probe signal intensity | |
| nssv7473710 | copy number gain | 45473 | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7459990 | Remapped | Good | NT_187603.1:g.(?_8 7526)_(151532_?)de l | GRCh38.p12 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 87,526 | 151,532 |
| nssv7460938 | Remapped | Good | NT_187603.1:g.(?_8 7526)_(151532_?)du p | GRCh38.p12 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 87,526 | 151,532 |
| nssv7473710 | Remapped | Good | NT_187603.1:g.(?_8 7526)_(151532_?)du p | GRCh38.p12 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 87,526 | 151,532 |
| nssv7459990 | Remapped | Good | NC_000015.10:g.(?_ 22990524)_(2305153 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,990,524 | 23,051,531 |
| nssv7460938 | Remapped | Good | NC_000015.10:g.(?_ 22990524)_(2305153 1_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,990,524 | 23,051,531 |
| nssv7473710 | Remapped | Good | NC_000015.10:g.(?_ 22990524)_(2305153 1_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,990,524 | 23,051,531 |
| nssv7459990 | Remapped | Good | NC_000015.9:g.(?_2 2821537)_(22882544 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 22,821,537 | 22,882,544 |
| nssv7460938 | Remapped | Good | NC_000015.9:g.(?_2 2821537)_(22882544 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 22,821,537 | 22,882,544 |
| nssv7473710 | Remapped | Good | NC_000015.9:g.(?_2 2821537)_(22882544 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 22,821,537 | 22,882,544 |
| nssv7459990 | Submitted genomic | NC_000015.8:g.(?_2 0372901)_(20433985 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 20,372,901 | 20,433,985 | ||
| nssv7460938 | Submitted genomic | NC_000015.8:g.(?_2 0372901)_(20433985 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 20,372,901 | 20,433,985 | ||
| nssv7473710 | Submitted genomic | NC_000015.8:g.(?_2 0372901)_(20433985 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 20,372,901 | 20,433,985 |