nsv1187910
- 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:382,342
- 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: 1672 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1672 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 587 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1187910 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 66,343,868 | 66,726,209 |
| nsv1187910 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 64,011,105 | 64,393,446 |
| nsv1187910 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 62,162,085 | 62,544,426 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7469679 | copy number gain | 43446 | Oligo aCGH | Probe signal intensity | nssv7474787 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7469679 | Remapped | Perfect | NC_000018.10:g.(?_ 66343868)_(6672620 9_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 66,343,868 | 66,726,209 |
| nssv7469679 | Remapped | Perfect | NC_000018.9:g.(?_6 4011105)_(64393446 _?)dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 64,011,105 | 64,393,446 |
| nssv7469679 | Submitted genomic | NC_000018.8:g.(?_6 2162085)_(62544426 _?)dup | NCBI36 (hg18) | NC_000018.8 | Chr18 | 62,162,085 | 62,544,426 |