nsv1010793
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:67,305
- Publication(s):Coe et al. 2014
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: 338 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 338 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 59 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1010793 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 27,214,723 | 27,282,027 |
| nsv1010793 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 27,541,214 | 27,608,518 |
| nsv1010793 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 27,413,801 | 27,481,105 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3475703 | copy number gain | SNP array | Probe signal intensity |
| nssv3477431 | copy number gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3475703 | Remapped | Perfect | NC_000001.11:g.(?_ 27214723)_(2728202 7_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 27,214,723 | 27,282,027 |
| nssv3477431 | Remapped | Perfect | NC_000001.11:g.(?_ 27214723)_(2728202 7_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 27,214,723 | 27,282,027 |
| nssv3475703 | Remapped | Perfect | NC_000001.10:g.(?_ 27541214)_(2760851 8_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 27,541,214 | 27,608,518 |
| nssv3477431 | Remapped | Perfect | NC_000001.10:g.(?_ 27541214)_(2760851 8_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 27,541,214 | 27,608,518 |
| nssv3475703 | Submitted genomic | NC_000001.9:g.(?_2 7413801)_(27481105 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 27,413,801 | 27,481,105 | ||
| nssv3477431 | Submitted genomic | NC_000001.9:g.(?_2 7413801)_(27481105 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 27,413,801 | 27,481,105 |