nsv482421
- Organism: Homo sapiens
- Study:nstd40 (Sharp et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:147,757
- Publication(s):Sharp et al. 2006
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: 427 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 427 SVs from 49 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482421 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 72,986,800 | 73,134,556 |
| nsv482421 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 73,279,141 | 73,426,897 |
| nsv482421 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000015.7 | Chr15 | 70,994,958 | 71,142,714 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3006756 | copy number gain | BAC aCGH | Probe signal intensity |
| nssv3009248 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv3010561 | copy number gain | BAC aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3006756 | Remapped | Perfect | NC_000015.10:g.(?_ 72986800)_(7313455 6_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 72,986,800 | 73,134,556 |
| nssv3009248 | Remapped | Perfect | NC_000015.10:g.(?_ 72986800)_(7313455 6_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 72,986,800 | 73,134,556 |
| nssv3010561 | Remapped | Perfect | NC_000015.10:g.(?_ 72986800)_(7313455 6_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 72,986,800 | 73,134,556 |
| nssv3006756 | Remapped | Perfect | NC_000015.9:g.(?_7 3279141)_(73426897 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 73,279,141 | 73,426,897 |
| nssv3009248 | Remapped | Perfect | NC_000015.9:g.(?_7 3279141)_(73426897 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 73,279,141 | 73,426,897 |
| nssv3010561 | Remapped | Perfect | NC_000015.9:g.(?_7 3279141)_(73426897 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 73,279,141 | 73,426,897 |
| nssv3006756 | Submitted genomic | NC_000015.7:g.(?_7 0994958)_(71142714 _?)dup | NCBI34 (hg16) | NC_000015.7 | Chr15 | 70,994,958 | 71,142,714 | ||
| nssv3009248 | Submitted genomic | NC_000015.7:g.(?_7 0994958)_(71142714 _?)del | NCBI34 (hg16) | NC_000015.7 | Chr15 | 70,994,958 | 71,142,714 | ||
| nssv3010561 | Submitted genomic | NC_000015.7:g.(?_7 0994958)_(71142714 _?)dup | NCBI34 (hg16) | NC_000015.7 | Chr15 | 70,994,958 | 71,142,714 |