nsv830861
- Organism: Homo sapiens
- Study:nstd68 (Wong et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:224,274
- Publication(s):Wong et al. 2006
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: 770 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 755 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 40 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 | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv830861 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 164,593,442 | 164,817,715 |
| nsv830861 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 165,014,475 | 165,231,204 |
| nsv830861 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 164,984,886 | 165,201,615 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1445801 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1445802 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1445803 | copy number loss | BAC aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1445801 | Remapped | Good | NC_000006.12:g.(16 4593442_?)_(?_1648 17715)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 164,593,442 | 164,817,715 |
| nssv1445802 | Remapped | Good | NC_000006.12:g.(16 4593442_?)_(?_1648 17715)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 164,593,442 | 164,817,715 |
| nssv1445803 | Remapped | Good | NC_000006.12:g.(16 4593442_?)_(?_1648 17715)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 164,593,442 | 164,817,715 |
| nssv1445801 | Remapped | Perfect | NC_000006.11:g.(16 5014475_?)_(?_1652 31204)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 165,014,475 | 165,231,204 |
| nssv1445802 | Remapped | Perfect | NC_000006.11:g.(16 5014475_?)_(?_1652 31204)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 165,014,475 | 165,231,204 |
| nssv1445803 | Remapped | Perfect | NC_000006.11:g.(16 5014475_?)_(?_1652 31204)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 165,014,475 | 165,231,204 |
| nssv1445801 | Submitted genomic | NC_000006.9:g.(164 984886_?)_(?_16520 1615)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 164,984,886 | 165,201,615 | ||
| nssv1445802 | Submitted genomic | NC_000006.9:g.(164 984886_?)_(?_16520 1615)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 164,984,886 | 165,201,615 | ||
| nssv1445803 | Submitted genomic | NC_000006.9:g.(164 984886_?)_(?_16520 1615)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 164,984,886 | 165,201,615 |