nsv1193473
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:365,886
- Publication(s):Polyak 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: 1182 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1182 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 266 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1193473 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 32,620,021 | 32,985,906 |
| nsv1193473 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 33,085,622 | 33,451,507 |
| nsv1193473 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 32,858,209 | 33,224,094 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7466276 | copy number gain | 12265 | Oligo aCGH | Probe signal intensity | nssv7464171 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7466276 | Remapped | Perfect | NC_000001.11:g.(?_ 32620021)_(3298590 6_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 32,620,021 | 32,985,906 |
| nssv7466276 | Remapped | Perfect | NC_000001.10:g.(?_ 33085622)_(3345150 7_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 33,085,622 | 33,451,507 |
| nssv7466276 | Submitted genomic | NC_000001.9:g.(?_3 2858209)_(33224094 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 32,858,209 | 33,224,094 |