nsv821628
- Organism: Homo sapiens
- Study:nstd66 (Sebat et al. 2004)
- Variant Type:copy number variation
- Method Type:ROMA
- Submitted on:NCBI35 (hg17)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:254,852
- 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: 672 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 672 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 39 SVs from 10 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821628 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 111,235,980 | 111,490,831 |
| nsv821628 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 111,993,557 | 112,248,408 |
| nsv821628 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 111,709,788 | 111,964,639 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1421348 | copy number gain | ROMA | Probe signal intensity |
| nssv1421349 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421348 | Remapped | Perfect | NC_000002.12:g.(?_ 111235980)_(111490 831_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 111,235,980 | 111,490,831 |
| nssv1421349 | Remapped | Perfect | NC_000002.12:g.(?_ 111235980)_(111490 831_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 111,235,980 | 111,490,831 |
| nssv1421348 | Remapped | Perfect | NC_000002.11:g.(?_ 111993557)_(112248 408_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 111,993,557 | 112,248,408 |
| nssv1421349 | Remapped | Perfect | NC_000002.11:g.(?_ 111993557)_(112248 408_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 111,993,557 | 112,248,408 |
| nssv1421348 | Submitted genomic | NC_000002.9:g.(?_1 11709788)_(1119646 39_?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 111,709,788 | 111,964,639 | ||
| nssv1421349 | Submitted genomic | NC_000002.9:g.(?_1 11709788)_(1119646 39_?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 111,709,788 | 111,964,639 |