nsv1396847
- Organism: Homo sapiens
- Study:nstd122 (Duyzend et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:537,367
- Publication(s):Duyzend et al. 2015
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: 3366 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 3366 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1434 SVs from 25 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1396847 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 27,241,092 | 27,778,458 |
| nsv1396847 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 27,732,000 | 28,269,366 |
| nsv1396847 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 32,423,840 | 32,961,206 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv8612617 | copy number loss | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv8612617 | Remapped | Perfect | NC_000019.10:g.(?_ 27241092)_(2777845 8_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 27,241,092 | 27,778,458 |
| nssv8612617 | Remapped | Perfect | NC_000019.9:g.(?_2 7732000)_(28269366 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 27,732,000 | 28,269,366 |
| nssv8612617 | Submitted genomic | NC_000019.8:g.(?_3 2423840)_(32961206 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 32,423,840 | 32,961,206 |