nsv821646
- Organism: Homo sapiens
- Study:nstd66 (Sebat et al. 2004)
- Variant Type:copy number variation
- Method Type:ROMA
- Submitted on:NCBI35 (hg17)
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:198,167
- Publication(s):Sebat et al. 2004
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: 1064 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1064 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 46 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821646 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 35,636,651 | 35,834,817 |
| nsv821646 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 35,604,428 | 35,802,594 |
| nsv821646 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 35,712,406 | 35,910,572 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1421181 | copy number loss | ROMA | Probe signal intensity |
| nssv1421182 | copy number loss | ROMA | Probe signal intensity |
| nssv1421183 | copy number loss | ROMA | Probe signal intensity |
| nssv1421184 | copy number loss | ROMA | Probe signal intensity |
| nssv1421185 | copy number loss | ROMA | Probe signal intensity |
| nssv1421186 | copy number loss | ROMA | Probe signal intensity |
| nssv1421414 | copy number loss | ROMA | Probe signal intensity |
| nssv1421415 | copy number loss | ROMA | Probe signal intensity |
| nssv1421416 | copy number loss | ROMA | Probe signal intensity |
| nssv1421417 | copy number loss | ROMA | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421181 | Remapped | Perfect | NC_000006.12:g.(?_ 35636651)_(3583481 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 35,636,651 | 35,834,817 |
| nssv1421182 | Remapped | Perfect | NC_000006.12:g.(?_ 35636651)_(3583481 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 35,636,651 | 35,834,817 |
| nssv1421183 | Remapped | Perfect | NC_000006.12:g.(?_ 35636651)_(3583481 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 35,636,651 | 35,834,817 |
| nssv1421184 | Remapped | Perfect | NC_000006.12:g.(?_ 35636651)_(3583481 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 35,636,651 | 35,834,817 |
| nssv1421185 | Remapped | Perfect | NC_000006.12:g.(?_ 35636651)_(3583481 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 35,636,651 | 35,834,817 |
| nssv1421186 | Remapped | Perfect | NC_000006.12:g.(?_ 35636651)_(3583481 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 35,636,651 | 35,834,817 |
| nssv1421414 | Remapped | Perfect | NC_000006.12:g.(?_ 35636651)_(3583481 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 35,636,651 | 35,834,817 |
| nssv1421415 | Remapped | Perfect | NC_000006.12:g.(?_ 35636651)_(3583481 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 35,636,651 | 35,834,817 |
| nssv1421416 | Remapped | Perfect | NC_000006.12:g.(?_ 35636651)_(3583481 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 35,636,651 | 35,834,817 |
| nssv1421417 | Remapped | Perfect | NC_000006.12:g.(?_ 35636651)_(3583481 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 35,636,651 | 35,834,817 |
| nssv1421181 | Remapped | Perfect | NC_000006.11:g.(?_ 35604428)_(3580259 4_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 35,604,428 | 35,802,594 |
| nssv1421182 | Remapped | Perfect | NC_000006.11:g.(?_ 35604428)_(3580259 4_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 35,604,428 | 35,802,594 |
| nssv1421183 | Remapped | Perfect | NC_000006.11:g.(?_ 35604428)_(3580259 4_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 35,604,428 | 35,802,594 |
| nssv1421184 | Remapped | Perfect | NC_000006.11:g.(?_ 35604428)_(3580259 4_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 35,604,428 | 35,802,594 |
| nssv1421185 | Remapped | Perfect | NC_000006.11:g.(?_ 35604428)_(3580259 4_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 35,604,428 | 35,802,594 |
| nssv1421186 | Remapped | Perfect | NC_000006.11:g.(?_ 35604428)_(3580259 4_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 35,604,428 | 35,802,594 |
| nssv1421414 | Remapped | Perfect | NC_000006.11:g.(?_ 35604428)_(3580259 4_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 35,604,428 | 35,802,594 |
| nssv1421415 | Remapped | Perfect | NC_000006.11:g.(?_ 35604428)_(3580259 4_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 35,604,428 | 35,802,594 |
| nssv1421416 | Remapped | Perfect | NC_000006.11:g.(?_ 35604428)_(3580259 4_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 35,604,428 | 35,802,594 |
| nssv1421417 | Remapped | Perfect | NC_000006.11:g.(?_ 35604428)_(3580259 4_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 35,604,428 | 35,802,594 |
| nssv1421181 | Submitted genomic | NC_000006.9:g.(?_3 5712406)_(35910572 _?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 35,712,406 | 35,910,572 | ||
| nssv1421182 | Submitted genomic | NC_000006.9:g.(?_3 5712406)_(35910572 _?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 35,712,406 | 35,910,572 | ||
| nssv1421183 | Submitted genomic | NC_000006.9:g.(?_3 5712406)_(35910572 _?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 35,712,406 | 35,910,572 | ||
| nssv1421184 | Submitted genomic | NC_000006.9:g.(?_3 5712406)_(35910572 _?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 35,712,406 | 35,910,572 | ||
| nssv1421185 | Submitted genomic | NC_000006.9:g.(?_3 5712406)_(35910572 _?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 35,712,406 | 35,910,572 | ||
| nssv1421186 | Submitted genomic | NC_000006.9:g.(?_3 5712406)_(35910572 _?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 35,712,406 | 35,910,572 | ||
| nssv1421414 | Submitted genomic | NC_000006.9:g.(?_3 5712406)_(35910572 _?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 35,712,406 | 35,910,572 | ||
| nssv1421415 | Submitted genomic | NC_000006.9:g.(?_3 5712406)_(35910572 _?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 35,712,406 | 35,910,572 | ||
| nssv1421416 | Submitted genomic | NC_000006.9:g.(?_3 5712406)_(35910572 _?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 35,712,406 | 35,910,572 | ||
| nssv1421417 | Submitted genomic | NC_000006.9:g.(?_3 5712406)_(35910572 _?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 35,712,406 | 35,910,572 |