nsv1054575
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:184,734
- 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: 415 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 415 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 128 SVs from 20 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1054575 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 71,641,081 | 71,825,814 |
| nsv1054575 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 71,352,127 | 71,536,860 |
| nsv1054575 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 71,029,775 | 71,214,508 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3710650 | copy number gain | SNP array | Probe signal intensity |
| nssv3710651 | copy number gain | SNP array | Probe signal intensity |
| nssv3710652 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3710650 | Remapped | Perfect | NC_000011.10:g.(?_ 71641081)_(7182581 4_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 71,641,081 | 71,825,814 |
| nssv3710651 | Remapped | Perfect | NC_000011.10:g.(?_ 71641081)_(7182581 4_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 71,641,081 | 71,825,814 |
| nssv3710652 | Remapped | Perfect | NC_000011.10:g.(?_ 71641081)_(7182581 4_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 71,641,081 | 71,825,814 |
| nssv3710650 | Remapped | Perfect | NC_000011.9:g.(?_7 1352127)_(71536860 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 71,352,127 | 71,536,860 |
| nssv3710651 | Remapped | Perfect | NC_000011.9:g.(?_7 1352127)_(71536860 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 71,352,127 | 71,536,860 |
| nssv3710652 | Remapped | Perfect | NC_000011.9:g.(?_7 1352127)_(71536860 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 71,352,127 | 71,536,860 |
| nssv3710650 | Submitted genomic | NC_000011.8:g.(?_7 1029775)_(71214508 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 71,029,775 | 71,214,508 | ||
| nssv3710651 | Submitted genomic | NC_000011.8:g.(?_7 1029775)_(71214508 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 71,029,775 | 71,214,508 | ||
| nssv3710652 | Submitted genomic | NC_000011.8:g.(?_7 1029775)_(71214508 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 71,029,775 | 71,214,508 |