nsv1001216
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:522,095
- 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: 1684 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1684 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 474 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1001216 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 190,579,399 | 191,101,493 |
| nsv1001216 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 190,548,529 | 191,070,623 |
| nsv1001216 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 188,815,152 | 189,337,246 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3484411 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3484411 | Remapped | Perfect | NC_000001.11:g.(?_ 190579399)_(191101 493_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 190,579,399 | 191,101,493 |
| nssv3484411 | Remapped | Perfect | NC_000001.10:g.(?_ 190548529)_(191070 623_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 190,548,529 | 191,070,623 |
| nssv3484411 | Submitted genomic | NC_000001.9:g.(?_1 88815152)_(1893372 46_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 188,815,152 | 189,337,246 |