nsv469712
- Organism: Homo sapiens
- Study:nstd29 (Locke et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:168,312
- 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: 565 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 565 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1 SVs from 1 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv469712 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 21,535,301 | 21,703,612 |
| nsv469712 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 21,556,847 | 21,725,158 |
| nsv469712 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000011.7 | Chr11 | 21,521,156 | 21,689,467 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1672243 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1672464 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1676605 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1672243 | Remapped | Perfect | NC_000011.10:g.(?_ 21535301)_(2170361 2_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 21,535,301 | 21,703,612 |
| nssv1672464 | Remapped | Perfect | NC_000011.10:g.(?_ 21535301)_(2170361 2_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 21,535,301 | 21,703,612 |
| nssv1676605 | Remapped | Perfect | NC_000011.10:g.(?_ 21535301)_(2170361 2_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 21,535,301 | 21,703,612 |
| nssv1672243 | Remapped | Perfect | NC_000011.9:g.(?_2 1556847)_(21725158 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 21,556,847 | 21,725,158 |
| nssv1672464 | Remapped | Perfect | NC_000011.9:g.(?_2 1556847)_(21725158 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 21,556,847 | 21,725,158 |
| nssv1676605 | Remapped | Perfect | NC_000011.9:g.(?_2 1556847)_(21725158 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 21,556,847 | 21,725,158 |
| nssv1672243 | Submitted genomic | NC_000011.7:g.(?_2 1521156)_(21689467 _?)del | NCBI34 (hg16) | NC_000011.7 | Chr11 | 21,521,156 | 21,689,467 | ||
| nssv1672464 | Submitted genomic | NC_000011.7:g.(?_2 1521156)_(21689467 _?)del | NCBI34 (hg16) | NC_000011.7 | Chr11 | 21,521,156 | 21,689,467 | ||
| nssv1676605 | Submitted genomic | NC_000011.7:g.(?_2 1521156)_(21689467 _?)del | NCBI34 (hg16) | NC_000011.7 | Chr11 | 21,521,156 | 21,689,467 |