nsv821618
- 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:175,341
- 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: 893 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 893 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 40 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821618 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 105,517,432 | 105,692,772 |
| nsv821618 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 106,060,054 | 106,235,394 |
| nsv821618 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 105,772,075 | 105,947,415 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1421407 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421407 | Remapped | Perfect | NC_000001.11:g.(?_ 105517432)_(105692 772_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,517,432 | 105,692,772 |
| nssv1421407 | Remapped | Perfect | NC_000001.10:g.(?_ 106060054)_(106235 394_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 106,060,054 | 106,235,394 |
| nssv1421407 | Submitted genomic | NC_000001.8:g.(?_1 05772075)_(1059474 15_?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 105,772,075 | 105,947,415 |