nsv482483
- Organism: Homo sapiens
- Study:nstd40 (Sharp 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:150,525
- Publication(s):Sharp 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: 765 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 765 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 2 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482483 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 161,714,674 | 161,865,198 |
| nsv482483 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 162,135,706 | 162,286,230 |
| nsv482483 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000006.8 | Chr6 | 162,044,994 | 162,195,518 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3005768 | copy number gain | BAC aCGH | Probe signal intensity |
| nssv3009086 | copy number gain | BAC aCGH | Probe signal intensity |
| nssv3009486 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv3009742 | copy number gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3005768 | Remapped | Perfect | NC_000006.12:g.(?_ 161714674)_(161865 198_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 161,714,674 | 161,865,198 |
| nssv3009086 | Remapped | Perfect | NC_000006.12:g.(?_ 161714674)_(161865 198_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 161,714,674 | 161,865,198 |
| nssv3009486 | Remapped | Perfect | NC_000006.12:g.(?_ 161714674)_(161865 198_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 161,714,674 | 161,865,198 |
| nssv3009742 | Remapped | Perfect | NC_000006.12:g.(?_ 161714674)_(161865 198_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 161,714,674 | 161,865,198 |
| nssv3005768 | Remapped | Perfect | NC_000006.11:g.(?_ 162135706)_(162286 230_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 162,135,706 | 162,286,230 |
| nssv3009086 | Remapped | Perfect | NC_000006.11:g.(?_ 162135706)_(162286 230_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 162,135,706 | 162,286,230 |
| nssv3009486 | Remapped | Perfect | NC_000006.11:g.(?_ 162135706)_(162286 230_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 162,135,706 | 162,286,230 |
| nssv3009742 | Remapped | Perfect | NC_000006.11:g.(?_ 162135706)_(162286 230_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 162,135,706 | 162,286,230 |
| nssv3005768 | Submitted genomic | NC_000006.8:g.(?_1 62044994)_(1621955 18_?)dup | NCBI34 (hg16) | NC_000006.8 | Chr6 | 162,044,994 | 162,195,518 | ||
| nssv3009086 | Submitted genomic | NC_000006.8:g.(?_1 62044994)_(1621955 18_?)dup | NCBI34 (hg16) | NC_000006.8 | Chr6 | 162,044,994 | 162,195,518 | ||
| nssv3009486 | Submitted genomic | NC_000006.8:g.(?_1 62044994)_(1621955 18_?)del | NCBI34 (hg16) | NC_000006.8 | Chr6 | 162,044,994 | 162,195,518 | ||
| nssv3009742 | Submitted genomic | NC_000006.8:g.(?_1 62044994)_(1621955 18_?)dup | NCBI34 (hg16) | NC_000006.8 | Chr6 | 162,044,994 | 162,195,518 |