nsv1196233
- 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:225,426
- 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: 892 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 892 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 270 SVs from 20 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1196233 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 23,950,212 | 24,175,637 |
| nsv1196233 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 24,133,014 | 24,358,439 |
| nsv1196233 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 23,924,854 | 24,150,279 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7466827 | copy number gain | 18958 | Oligo aCGH | Probe signal intensity | nssv7459408 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7466827 | Remapped | Perfect | NC_000019.10:g.(?_ 23950212)_(2417563 7_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 23,950,212 | 24,175,637 |
| nssv7466827 | Remapped | Perfect | NC_000019.9:g.(?_2 4133014)_(24358439 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 24,133,014 | 24,358,439 |
| nssv7466827 | Submitted genomic | NC_000019.8:g.(?_2 3924854)_(24150279 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 23,924,854 | 24,150,279 |