nsv512629
- Organism: Homo sapiens
- Study:nstd50 (Arlt et al. 2011)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:37,260
- Publication(s):Arlt et al. 2011
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: 543 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 538 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 265 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv512629 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 10,394,049 | 10,431,308 |
| nsv512629 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 11,081,149 | 11,118,408 |
| nsv512629 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 10,103,020 | 10,140,279 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv625244 | copy number loss | 1 | Sequencing | Paired-end mapping | 2,637 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv625244 | Remapped | Perfect | NC_000021.9:g.(103 94049_?)_(?_104313 08)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,394,049 | 10,431,308 |
| nssv625244 | Remapped | Perfect | NC_000021.8:g.(110 81149_?)_(?_111184 08)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 11,081,149 | 11,118,408 |
| nssv625244 | Submitted genomic | NC_000021.7:g.(101 03020_?)_(?_101402 79)del37260 | NCBI36 (hg18) | NC_000021.7 | Chr21 | 10,103,020 | 10,140,279 |