nsv821648
- Organism: Homo sapiens
- Study:nstd66 (Sebat et al. 2004)
- Variant Type:copy number variation
- Method Type:ROMA
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:179,143
- 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: 818 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 947 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821648 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 61,468,685 | 61,647,827 |
| nsv821648 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 62,085,769 | 62,357,732 |
| nsv821648 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 62,143,728 | 62,415,691 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1421188 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421188 | Remapped | Pass | NC_000006.12:g.(?_ 61468685)_(6164782 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 61,468,685 | 61,647,827 |
| nssv1421188 | Remapped | Perfect | NC_000006.11:g.(?_ 62085769)_(6235773 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 62,085,769 | 62,357,732 |
| nssv1421188 | Submitted genomic | NC_000006.9:g.(?_6 2143728)_(62415691 _?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 62,143,728 | 62,415,691 |