nsv821654
- 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:182,685
- 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: 2105 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 1457 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1629 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 1395 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 148 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821654 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000008.11 | Chr8 | 2,092,081 | 2,274,765 |
| nsv821654 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 275,118 | 456,031 |
| nsv821654 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000008.10 | Chr8 | 2,039,908 | 2,220,821 |
| nsv821654 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 74,519 | 255,432 |
| nsv821654 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000008.9 | Chr8 | 2,027,315 | 2,208,228 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1421200 | copy number gain | ROMA | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421200 | Remapped | Perfect | NT_187576.1:g.(?_2 75118)_(456031_?)d up | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 275,118 | 456,031 |
| nssv1421200 | Remapped | Good | NC_000008.11:g.(?_ 2092081)_(2274765_ ?)dup | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 2,092,081 | 2,274,765 |
| nssv1421200 | Remapped | Perfect | NW_003571042.1:g.( ?_74519)_(255432_? )dup | GRCh37.p13 | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 74,519 | 255,432 |
| nssv1421200 | Remapped | Perfect | NC_000008.10:g.(?_ 2039908)_(2220821_ ?)dup | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 2,039,908 | 2,220,821 |
| nssv1421200 | Submitted genomic | NC_000008.9:g.(?_2 027315)_(2208228_? )dup | NCBI35 (hg17) | NC_000008.9 | Chr8 | 2,027,315 | 2,208,228 |