nsv512601
- 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:36,103
- 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: 1019 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1019 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 654 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv512601 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 1,579,329 | 1,615,431 |
| nsv512601 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 1,559,975 | 1,596,077 |
| nsv512601 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 1,507,975 | 1,544,077 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv625213 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv625213 | Remapped | Perfect | NC_000020.11:g.(15 79329_?)_(?_161543 1)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,579,329 | 1,615,431 |
| nssv625213 | Remapped | Perfect | NC_000020.10:g.(15 59975_?)_(?_159607 7)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 1,559,975 | 1,596,077 |
| nssv625213 | Submitted genomic | NC_000020.9:g.(150 7975_?)_(?_1544077 )del36103 | NCBI36 (hg18) | NC_000020.9 | Chr20 | 1,507,975 | 1,544,077 |