nsv514601
- Organism: Homo sapiens
- Study:nstd46 (Campbell et al. 2011)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:21
- Validation:Not tested
- Clinical Assertions: No
- Region Size:16,191
- 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: 222 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 222 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 65 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv514601 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 21,172,206 | 21,188,396 |
| nsv514601 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 21,193,752 | 21,209,942 |
| nsv514601 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 21,150,328 | 21,166,518 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv2779198 | copy number loss | NA19181 | Oligo aCGH | Probe signal intensity | 1 | 471 |
| nssv2779879 | copy number loss | NA21477 | Oligo aCGH | Probe signal intensity | 1 | 474 |
| nssv2779946 | copy number gain | NA18518 | Oligo aCGH | Probe signal intensity | 3 | 458 |
| nssv2780032 | copy number loss | NA19235 | Oligo aCGH | Probe signal intensity | 1 | 458 |
| nssv2780147 | copy number loss | NA19207 | Oligo aCGH | Probe signal intensity | 1 | 471 |
| nssv2780661 | copy number loss | NA21301 | Oligo aCGH | Probe signal intensity | 1 | 446 |
| nssv2780775 | copy number loss | NA19225 | Oligo aCGH | Probe signal intensity | 1 | 435 |
| nssv2781259 | copy number loss | NA19209 | Oligo aCGH | Probe signal intensity | 1 | 452 |
| nssv2781435 | copy number loss | NA19239 | Oligo aCGH | Probe signal intensity | 1 | 492 |
| nssv2781551 | copy number loss | NA19214 | Oligo aCGH | Probe signal intensity | 1 | 454 |
| nssv2782609 | copy number loss | NA19211 | Oligo aCGH | Probe signal intensity | 1 | 481 |
| nssv2784436 | copy number loss | NA19145 | Oligo aCGH | Probe signal intensity | 1 | 472 |
| nssv2784878 | copy number loss | NA19182 | Oligo aCGH | Probe signal intensity | 1 | 455 |
| nssv2784973 | copy number loss | NA19237 | Oligo aCGH | Probe signal intensity | 1 | 447 |
| nssv2786017 | copy number loss | NA21302 | Oligo aCGH | Probe signal intensity | 1 | 425 |
| nssv2786119 | copy number loss | NA19144 | Oligo aCGH | Probe signal intensity | 1 | 466 |
| nssv2786518 | copy number loss | NA21344 | Oligo aCGH | Probe signal intensity | 1 | 452 |
| nssv2786565 | copy number loss | NA19117 | Oligo aCGH | Probe signal intensity | 1 | 473 |
| nssv2786731 | copy number loss | NA19208 | Oligo aCGH | Probe signal intensity | 1 | 476 |
| nssv2786848 | copy number loss | NA19153 | Oligo aCGH | Probe signal intensity | 1 | 452 |
| nssv2787282 | copy number loss | NA21476 | Oligo aCGH | Probe signal intensity | 1 | 440 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv2779198 | Remapped | Perfect | NC_000011.10:g.(?_ 21172206)_(2118839 6_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 21,172,206 | 21,188,396 |
| nssv2779879 | Remapped | Perfect | NC_000011.10:g.(?_ 21172206)_(2118839 6_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 21,172,206 | 21,188,396 |
| nssv2779946 | Remapped | Perfect | NC_000011.10:g.(?_ 21172206)_(2118839 6_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 21,172,206 | 21,188,396 |
| nssv2780032 | Remapped | Perfect | NC_000011.10:g.(?_ 21172206)_(2118839 6_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 21,172,206 | 21,188,396 |
| nssv2780147 | Remapped | Perfect | NC_000011.10:g.(?_ 21172206)_(2118839 6_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 21,172,206 | 21,188,396 |
| nssv2780661 | Remapped | Perfect | NC_000011.10:g.(?_ 21172206)_(2118839 6_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 21,172,206 | 21,188,396 |
| nssv2780775 | Remapped | Perfect | NC_000011.10:g.(?_ 21172206)_(2118839 6_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 21,172,206 | 21,188,396 |
| nssv2781259 | Remapped | Perfect | NC_000011.10:g.(?_ 21172206)_(2118839 6_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 21,172,206 | 21,188,396 |
| nssv2781435 | Remapped | Perfect | NC_000011.10:g.(?_ 21172206)_(2118839 6_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 21,172,206 | 21,188,396 |
| nssv2781551 | Remapped | Perfect | NC_000011.10:g.(?_ 21172206)_(2118839 6_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 21,172,206 | 21,188,396 |
| nssv2782609 | Remapped | Perfect | NC_000011.10:g.(?_ 21172206)_(2118839 6_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 21,172,206 | 21,188,396 |
| nssv2784436 | Remapped | Perfect | NC_000011.10:g.(?_ 21172206)_(2118839 6_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 21,172,206 | 21,188,396 |
| nssv2784878 | Remapped | Perfect | NC_000011.10:g.(?_ 21172206)_(2118839 6_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 21,172,206 | 21,188,396 |
| nssv2784973 | Remapped | Perfect | NC_000011.10:g.(?_ 21172206)_(2118839 6_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 21,172,206 | 21,188,396 |
| nssv2786017 | Remapped | Perfect | NC_000011.10:g.(?_ 21172206)_(2118839 6_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 21,172,206 | 21,188,396 |
| nssv2786119 | Remapped | Perfect | NC_000011.10:g.(?_ 21172206)_(2118839 6_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 21,172,206 | 21,188,396 |
| nssv2786518 | Remapped | Perfect | NC_000011.10:g.(?_ 21172206)_(2118839 6_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 21,172,206 | 21,188,396 |
| nssv2786565 | Remapped | Perfect | NC_000011.10:g.(?_ 21172206)_(2118839 6_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 21,172,206 | 21,188,396 |
| nssv2786731 | Remapped | Perfect | NC_000011.10:g.(?_ 21172206)_(2118839 6_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 21,172,206 | 21,188,396 |
| nssv2786848 | Remapped | Perfect | NC_000011.10:g.(?_ 21172206)_(2118839 6_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 21,172,206 | 21,188,396 |
| nssv2787282 | Remapped | Perfect | NC_000011.10:g.(?_ 21172206)_(2118839 6_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 21,172,206 | 21,188,396 |
| nssv2779198 | Remapped | Perfect | NC_000011.9:g.(?_2 1193752)_(21209942 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 21,193,752 | 21,209,942 |
| nssv2779879 | Remapped | Perfect | NC_000011.9:g.(?_2 1193752)_(21209942 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 21,193,752 | 21,209,942 |
| nssv2779946 | Remapped | Perfect | NC_000011.9:g.(?_2 1193752)_(21209942 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 21,193,752 | 21,209,942 |
| nssv2780032 | Remapped | Perfect | NC_000011.9:g.(?_2 1193752)_(21209942 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 21,193,752 | 21,209,942 |
| nssv2780147 | Remapped | Perfect | NC_000011.9:g.(?_2 1193752)_(21209942 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 21,193,752 | 21,209,942 |
| nssv2780661 | Remapped | Perfect | NC_000011.9:g.(?_2 1193752)_(21209942 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 21,193,752 | 21,209,942 |
| nssv2780775 | Remapped | Perfect | NC_000011.9:g.(?_2 1193752)_(21209942 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 21,193,752 | 21,209,942 |
| nssv2781259 | Remapped | Perfect | NC_000011.9:g.(?_2 1193752)_(21209942 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 21,193,752 | 21,209,942 |
| nssv2781435 | Remapped | Perfect | NC_000011.9:g.(?_2 1193752)_(21209942 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 21,193,752 | 21,209,942 |
| nssv2781551 | Remapped | Perfect | NC_000011.9:g.(?_2 1193752)_(21209942 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 21,193,752 | 21,209,942 |
| nssv2782609 | Remapped | Perfect | NC_000011.9:g.(?_2 1193752)_(21209942 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 21,193,752 | 21,209,942 |
| nssv2784436 | Remapped | Perfect | NC_000011.9:g.(?_2 1193752)_(21209942 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 21,193,752 | 21,209,942 |
| nssv2784878 | Remapped | Perfect | NC_000011.9:g.(?_2 1193752)_(21209942 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 21,193,752 | 21,209,942 |
| nssv2784973 | Remapped | Perfect | NC_000011.9:g.(?_2 1193752)_(21209942 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 21,193,752 | 21,209,942 |
| nssv2786017 | Remapped | Perfect | NC_000011.9:g.(?_2 1193752)_(21209942 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 21,193,752 | 21,209,942 |
| nssv2786119 | Remapped | Perfect | NC_000011.9:g.(?_2 1193752)_(21209942 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 21,193,752 | 21,209,942 |
| nssv2786518 | Remapped | Perfect | NC_000011.9:g.(?_2 1193752)_(21209942 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 21,193,752 | 21,209,942 |
| nssv2786565 | Remapped | Perfect | NC_000011.9:g.(?_2 1193752)_(21209942 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 21,193,752 | 21,209,942 |
| nssv2786731 | Remapped | Perfect | NC_000011.9:g.(?_2 1193752)_(21209942 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 21,193,752 | 21,209,942 |
| nssv2786848 | Remapped | Perfect | NC_000011.9:g.(?_2 1193752)_(21209942 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 21,193,752 | 21,209,942 |
| nssv2787282 | Remapped | Perfect | NC_000011.9:g.(?_2 1193752)_(21209942 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 21,193,752 | 21,209,942 |
| nssv2779198 | Submitted genomic | NC_000011.8:g.(?_2 1150328)_(21166518 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 21,150,328 | 21,166,518 | ||
| nssv2779879 | Submitted genomic | NC_000011.8:g.(?_2 1150328)_(21166518 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 21,150,328 | 21,166,518 | ||
| nssv2779946 | Submitted genomic | NC_000011.8:g.(?_2 1150328)_(21166518 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 21,150,328 | 21,166,518 | ||
| nssv2780032 | Submitted genomic | NC_000011.8:g.(?_2 1150328)_(21166518 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 21,150,328 | 21,166,518 | ||
| nssv2780147 | Submitted genomic | NC_000011.8:g.(?_2 1150328)_(21166518 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 21,150,328 | 21,166,518 | ||
| nssv2780661 | Submitted genomic | NC_000011.8:g.(?_2 1150328)_(21166518 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 21,150,328 | 21,166,518 | ||
| nssv2780775 | Submitted genomic | NC_000011.8:g.(?_2 1150328)_(21166518 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 21,150,328 | 21,166,518 | ||
| nssv2781259 | Submitted genomic | NC_000011.8:g.(?_2 1150328)_(21166518 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 21,150,328 | 21,166,518 | ||
| nssv2781435 | Submitted genomic | NC_000011.8:g.(?_2 1150328)_(21166518 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 21,150,328 | 21,166,518 | ||
| nssv2781551 | Submitted genomic | NC_000011.8:g.(?_2 1150328)_(21166518 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 21,150,328 | 21,166,518 | ||
| nssv2782609 | Submitted genomic | NC_000011.8:g.(?_2 1150328)_(21166518 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 21,150,328 | 21,166,518 | ||
| nssv2784436 | Submitted genomic | NC_000011.8:g.(?_2 1150328)_(21166518 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 21,150,328 | 21,166,518 | ||
| nssv2784878 | Submitted genomic | NC_000011.8:g.(?_2 1150328)_(21166518 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 21,150,328 | 21,166,518 | ||
| nssv2784973 | Submitted genomic | NC_000011.8:g.(?_2 1150328)_(21166518 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 21,150,328 | 21,166,518 | ||
| nssv2786017 | Submitted genomic | NC_000011.8:g.(?_2 1150328)_(21166518 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 21,150,328 | 21,166,518 | ||
| nssv2786119 | Submitted genomic | NC_000011.8:g.(?_2 1150328)_(21166518 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 21,150,328 | 21,166,518 | ||
| nssv2786518 | Submitted genomic | NC_000011.8:g.(?_2 1150328)_(21166518 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 21,150,328 | 21,166,518 | ||
| nssv2786565 | Submitted genomic | NC_000011.8:g.(?_2 1150328)_(21166518 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 21,150,328 | 21,166,518 | ||
| nssv2786731 | Submitted genomic | NC_000011.8:g.(?_2 1150328)_(21166518 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 21,150,328 | 21,166,518 | ||
| nssv2786848 | Submitted genomic | NC_000011.8:g.(?_2 1150328)_(21166518 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 21,150,328 | 21,166,518 | ||
| nssv2787282 | Submitted genomic | NC_000011.8:g.(?_2 1150328)_(21166518 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 21,150,328 | 21,166,518 |