nsv821650
- Organism: Homo sapiens
- Study:nstd66 (Sebat et al. 2004)
- Variant Type:copy number variation
- Method Type:ROMA
- Submitted on:NCBI35 (hg17)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:93,084
- 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: 2635 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 2635 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 736 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821650 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,292,487 | 78,385,570 |
| nsv821650 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 79,002,204 | 79,095,287 |
| nsv821650 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 79,058,923 | 79,152,006 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1421190 | copy number loss | ROMA | Probe signal intensity |
| nssv1421192 | copy number loss | ROMA | Probe signal intensity |
| nssv1421193 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421190 | Remapped | Perfect | NC_000006.12:g.(?_ 78292487)_(7838557 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,292,487 | 78,385,570 |
| nssv1421192 | Remapped | Perfect | NC_000006.12:g.(?_ 78292487)_(7838557 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,292,487 | 78,385,570 |
| nssv1421193 | Remapped | Perfect | NC_000006.12:g.(?_ 78292487)_(7838557 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,292,487 | 78,385,570 |
| nssv1421190 | Remapped | Perfect | NC_000006.11:g.(?_ 79002204)_(7909528 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 79,002,204 | 79,095,287 |
| nssv1421192 | Remapped | Perfect | NC_000006.11:g.(?_ 79002204)_(7909528 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 79,002,204 | 79,095,287 |
| nssv1421193 | Remapped | Perfect | NC_000006.11:g.(?_ 79002204)_(7909528 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 79,002,204 | 79,095,287 |
| nssv1421190 | Submitted genomic | NC_000006.9:g.(?_7 9058923)_(79152006 _?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,058,923 | 79,152,006 | ||
| nssv1421192 | Submitted genomic | NC_000006.9:g.(?_7 9058923)_(79152006 _?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,058,923 | 79,152,006 | ||
| nssv1421193 | Submitted genomic | NC_000006.9:g.(?_7 9058923)_(79152006 _?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 79,058,923 | 79,152,006 |