nsv1191199
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:383,027
- 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: 1278 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 1278 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 485 SVs from 20 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1191199 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 24,589,529 | 24,972,555 |
| nsv1191199 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 25,961,843 | 26,344,869 |
| nsv1191199 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 24,883,714 | 25,266,740 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7463474 | copy number loss | 41780 | Oligo aCGH | Probe signal intensity | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7463474 | Remapped | Perfect | NC_000021.9:g.(?_2 4589529)_(24972555 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 24,589,529 | 24,972,555 |
| nssv7463474 | Remapped | Perfect | NC_000021.8:g.(?_2 5961843)_(26344869 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 25,961,843 | 26,344,869 |
| nssv7463474 | Submitted genomic | NC_000021.7:g.(?_2 4883714)_(25266740 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 24,883,714 | 25,266,740 |