nsv469558
- Organism: Homo sapiens
- Study:nstd29 (Locke et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:101,423
- Publication(s):Locke 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: 1004 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 1008 SVs from 68 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv469558 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 49,097,265 | 49,198,687 |
| nsv469558 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 49,099,282 | 49,200,704 |
| nsv469558 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000004.8 | Chr4 | 49,014,824 | 49,116,246 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1673789 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1674053 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1674778 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1676171 | copy number loss | BAC aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1673789 | Remapped | Perfect | NC_000004.12:g.(?_ 49097265)_(4919868 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 49,097,265 | 49,198,687 |
| nssv1674053 | Remapped | Perfect | NC_000004.12:g.(?_ 49097265)_(4919868 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 49,097,265 | 49,198,687 |
| nssv1674778 | Remapped | Perfect | NC_000004.12:g.(?_ 49097265)_(4919868 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 49,097,265 | 49,198,687 |
| nssv1676171 | Remapped | Perfect | NC_000004.12:g.(?_ 49097265)_(4919868 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 49,097,265 | 49,198,687 |
| nssv1673789 | Remapped | Perfect | NC_000004.11:g.(?_ 49099282)_(4920070 4_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 49,099,282 | 49,200,704 |
| nssv1674053 | Remapped | Perfect | NC_000004.11:g.(?_ 49099282)_(4920070 4_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 49,099,282 | 49,200,704 |
| nssv1674778 | Remapped | Perfect | NC_000004.11:g.(?_ 49099282)_(4920070 4_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 49,099,282 | 49,200,704 |
| nssv1676171 | Remapped | Perfect | NC_000004.11:g.(?_ 49099282)_(4920070 4_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 49,099,282 | 49,200,704 |
| nssv1673789 | Submitted genomic | NC_000004.8:g.(?_4 9014824)_(49116246 _?)del | NCBI34 (hg16) | NC_000004.8 | Chr4 | 49,014,824 | 49,116,246 | ||
| nssv1674053 | Submitted genomic | NC_000004.8:g.(?_4 9014824)_(49116246 _?)del | NCBI34 (hg16) | NC_000004.8 | Chr4 | 49,014,824 | 49,116,246 | ||
| nssv1674778 | Submitted genomic | NC_000004.8:g.(?_4 9014824)_(49116246 _?)del | NCBI34 (hg16) | NC_000004.8 | Chr4 | 49,014,824 | 49,116,246 | ||
| nssv1676171 | Submitted genomic | NC_000004.8:g.(?_4 9014824)_(49116246 _?)del | NCBI34 (hg16) | NC_000004.8 | Chr4 | 49,014,824 | 49,116,246 |