nsv1070758
- Organism: Homo sapiens
- Study:nstd99 (Thareja et al. 2015)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:67,035
- Publication(s):Thareja 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: 484 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 244 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 484 SVs from 74 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1070758 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 22,008,453 | 22,075,487 |
| nsv1070758 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 1,029,551 | 1,096,585 |
| nsv1070758 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 22,019,774 | 22,086,808 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3772510 | deletion | KWP1 | Sequencing | Read depth and paired-end mapping | 11,116 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3772510 | Remapped | Perfect | NW_017852933.1:g.1 029551_1096585del | GRCh38.p12 | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 1,029,551 | 1,096,585 |
| nssv3772510 | Remapped | Perfect | NC_000016.10:g.220 08453_22075487del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 22,008,453 | 22,075,487 |
| nssv3772510 | Submitted genomic | NC_000016.9:g.2201 9774_22086808del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 22,019,774 | 22,086,808 |