nsv471680
- Organism: Homo sapiens
- Study:nstd32 (Sharp et al. 2005)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:189,400
- Publication(s):Sharp et al. 2005
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: 1588 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 1588 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 2 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv471680 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 31,922,244 | 32,111,643 |
| nsv471680 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 32,214,447 | 32,403,844 |
| nsv471680 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000015.7 | Chr15 | 29,930,503 | 30,119,900 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv551111 | copy number gain | GM10494A | BAC aCGH | Probe signal intensity | 55 |
| nssv551112 | copy number gain | GM10495B | BAC aCGH | Probe signal intensity | 45 |
| nssv551113 | copy number gain | GM15729 | BAC aCGH | Probe signal intensity | 47 |
| nssv551114 | copy number loss | JK1688B | BAC aCGH | Probe signal intensity | 53 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv551111 | Remapped | Good | NC_000015.10:g.(?_ 31922244)_(3211164 3_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 31,922,244 | 32,111,643 |
| nssv551112 | Remapped | Good | NC_000015.10:g.(?_ 31922244)_(3211164 3_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 31,922,244 | 32,111,643 |
| nssv551113 | Remapped | Good | NC_000015.10:g.(?_ 31922244)_(3211164 3_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 31,922,244 | 32,111,643 |
| nssv551114 | Remapped | Good | NC_000015.10:g.(?_ 31922244)_(3211164 3_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 31,922,244 | 32,111,643 |
| nssv551111 | Remapped | Perfect | NC_000015.9:g.(?_3 2214447)_(32403844 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 32,214,447 | 32,403,844 |
| nssv551112 | Remapped | Perfect | NC_000015.9:g.(?_3 2214447)_(32403844 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 32,214,447 | 32,403,844 |
| nssv551113 | Remapped | Perfect | NC_000015.9:g.(?_3 2214447)_(32403844 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 32,214,447 | 32,403,844 |
| nssv551114 | Remapped | Perfect | NC_000015.9:g.(?_3 2214447)_(32403844 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 32,214,447 | 32,403,844 |
| nssv551111 | Submitted genomic | NC_000015.7:g.(?_2 9930503)_(30119900 _?)dup | NCBI34 (hg16) | NC_000015.7 | Chr15 | 29,930,503 | 30,119,900 | ||
| nssv551112 | Submitted genomic | NC_000015.7:g.(?_2 9930503)_(30119900 _?)dup | NCBI34 (hg16) | NC_000015.7 | Chr15 | 29,930,503 | 30,119,900 | ||
| nssv551113 | Submitted genomic | NC_000015.7:g.(?_2 9930503)_(30119900 _?)dup | NCBI34 (hg16) | NC_000015.7 | Chr15 | 29,930,503 | 30,119,900 | ||
| nssv551114 | Submitted genomic | NC_000015.7:g.(?_2 9930503)_(30119900 _?)del | NCBI34 (hg16) | NC_000015.7 | Chr15 | 29,930,503 | 30,119,900 |