nsv2740572
- Organism: Homo sapiens
- Study:nstd130 (Leppa et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,468,686
- Publication(s):Leppa et al. 2016
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: 13212 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 13212 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 3747 SVs from 36 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv2740572 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 554,554 | 3,023,239 |
| nsv2740572 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 604,554 | 3,073,240 |
| nsv2740572 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 544,555 | 3,013,241 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv13597491 | deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv13597491 | Remapped | Perfect | NC_000016.10:g.(?_ 554554)_(3023239_? )del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 554,554 | 3,023,239 |
| nssv13597491 | Remapped | Perfect | NC_000016.9:g.(?_6 04554)_(3073240_?) del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 604,554 | 3,073,240 |
| nssv13597491 | Submitted genomic | NC_000016.8:g.(?_5 44555)_(3013241_?) del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 544,555 | 3,013,241 |