nsv514469
- Organism: Homo sapiens
- Study:nstd46 (Campbell et al. 2011)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:35,551
- Publication(s):Campbell et al. 2011
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: 528 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 528 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 227 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv514469 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 4,861,460 | 4,897,010 |
| nsv514469 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 4,718,982 | 4,754,532 |
| nsv514469 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 4,706,390 | 4,741,940 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv2963431 | copy number loss | NA18486 | Oligo aCGH | Probe signal intensity | 1 | 487 |
| nssv2963432 | copy number gain | NA18972 | Oligo aCGH | Probe signal intensity | 3 | 438 |
| nssv2963433 | copy number gain | NA19007 | Oligo aCGH | Probe signal intensity | 3 | 477 |
| nssv2963434 | copy number gain | NA19012 | Oligo aCGH | Probe signal intensity | 3 | 466 |
| nssv2963435 | copy number loss | NA19153 | Oligo aCGH | Probe signal intensity | 1 | 452 |
| nssv2963436 | copy number loss | NA19154 | Oligo aCGH | Probe signal intensity | 1 | 465 |
| nssv2963437 | copy number loss | NA19160 | Oligo aCGH | Probe signal intensity | 1 | 487 |
| nssv2963438 | copy number loss | NA19161 | Oligo aCGH | Probe signal intensity | 1 | 475 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv2963431 | Remapped | Perfect | NC_000008.11:g.(?_ 4861460)_(4897010_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,861,460 | 4,897,010 |
| nssv2963432 | Remapped | Perfect | NC_000008.11:g.(?_ 4861460)_(4897010_ ?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,861,460 | 4,897,010 |
| nssv2963433 | Remapped | Perfect | NC_000008.11:g.(?_ 4861460)_(4897010_ ?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,861,460 | 4,897,010 |
| nssv2963434 | Remapped | Perfect | NC_000008.11:g.(?_ 4861460)_(4897010_ ?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,861,460 | 4,897,010 |
| nssv2963435 | Remapped | Perfect | NC_000008.11:g.(?_ 4861460)_(4897010_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,861,460 | 4,897,010 |
| nssv2963436 | Remapped | Perfect | NC_000008.11:g.(?_ 4861460)_(4897010_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,861,460 | 4,897,010 |
| nssv2963437 | Remapped | Perfect | NC_000008.11:g.(?_ 4861460)_(4897010_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,861,460 | 4,897,010 |
| nssv2963438 | Remapped | Perfect | NC_000008.11:g.(?_ 4861460)_(4897010_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 4,861,460 | 4,897,010 |
| nssv2963431 | Remapped | Perfect | NC_000008.10:g.(?_ 4718982)_(4754532_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 4,718,982 | 4,754,532 |
| nssv2963432 | Remapped | Perfect | NC_000008.10:g.(?_ 4718982)_(4754532_ ?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 4,718,982 | 4,754,532 |
| nssv2963433 | Remapped | Perfect | NC_000008.10:g.(?_ 4718982)_(4754532_ ?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 4,718,982 | 4,754,532 |
| nssv2963434 | Remapped | Perfect | NC_000008.10:g.(?_ 4718982)_(4754532_ ?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 4,718,982 | 4,754,532 |
| nssv2963435 | Remapped | Perfect | NC_000008.10:g.(?_ 4718982)_(4754532_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 4,718,982 | 4,754,532 |
| nssv2963436 | Remapped | Perfect | NC_000008.10:g.(?_ 4718982)_(4754532_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 4,718,982 | 4,754,532 |
| nssv2963437 | Remapped | Perfect | NC_000008.10:g.(?_ 4718982)_(4754532_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 4,718,982 | 4,754,532 |
| nssv2963438 | Remapped | Perfect | NC_000008.10:g.(?_ 4718982)_(4754532_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 4,718,982 | 4,754,532 |
| nssv2963431 | Submitted genomic | NC_000008.9:g.(?_4 706390)_(4741940_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 4,706,390 | 4,741,940 | ||
| nssv2963432 | Submitted genomic | NC_000008.9:g.(?_4 706390)_(4741940_? )dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 4,706,390 | 4,741,940 | ||
| nssv2963433 | Submitted genomic | NC_000008.9:g.(?_4 706390)_(4741940_? )dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 4,706,390 | 4,741,940 | ||
| nssv2963434 | Submitted genomic | NC_000008.9:g.(?_4 706390)_(4741940_? )dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 4,706,390 | 4,741,940 | ||
| nssv2963435 | Submitted genomic | NC_000008.9:g.(?_4 706390)_(4741940_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 4,706,390 | 4,741,940 | ||
| nssv2963436 | Submitted genomic | NC_000008.9:g.(?_4 706390)_(4741940_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 4,706,390 | 4,741,940 | ||
| nssv2963437 | Submitted genomic | NC_000008.9:g.(?_4 706390)_(4741940_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 4,706,390 | 4,741,940 | ||
| nssv2963438 | Submitted genomic | NC_000008.9:g.(?_4 706390)_(4741940_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 4,706,390 | 4,741,940 |