nsv1191424
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:722,010
- 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: 2813 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 2814 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 782 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1191424 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 75,160,597 | 75,882,606 |
| nsv1191424 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 73,156,692 | 73,878,687 |
| nsv1191424 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 70,668,287 | 71,390,282 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7466669 | copy number gain | 26772 | Oligo aCGH | Probe signal intensity | nssv7461258, nssv7460279 |
| nssv7467353 | copy number gain | 26768 | Oligo aCGH | Probe signal intensity | nssv7461685, nssv7473739 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7466669 | Remapped | Good | NC_000017.11:g.(?_ 75160597)_(7588260 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 75,160,597 | 75,882,606 |
| nssv7467353 | Remapped | Good | NC_000017.11:g.(?_ 75160597)_(7588260 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 75,160,597 | 75,882,606 |
| nssv7466669 | Remapped | Perfect | NC_000017.10:g.(?_ 73156692)_(7387868 7_?)dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 73,156,692 | 73,878,687 |
| nssv7467353 | Remapped | Perfect | NC_000017.10:g.(?_ 73156692)_(7387868 7_?)dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 73,156,692 | 73,878,687 |
| nssv7466669 | Submitted genomic | NC_000017.9:g.(?_7 0668287)_(71390282 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 70,668,287 | 71,390,282 | ||
| nssv7467353 | Submitted genomic | NC_000017.9:g.(?_7 0668287)_(71390282 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 70,668,287 | 71,390,282 |