nsv1190438
- 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:2,607,216
- 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: 7106 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 7106 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 2130 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1190438 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 79,811,555 | 82,418,770 |
| nsv1190438 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 79,107,378 | 81,714,589 |
| nsv1190438 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 79,143,134 | 81,750,345 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7462806 | copy number gain | 32243 | Oligo aCGH | Probe signal intensity | nssv7459840 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7462806 | Remapped | Perfect | NC_000005.10:g.(?_ 79811555)_(8241877 0_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 79,811,555 | 82,418,770 |
| nssv7462806 | Remapped | Perfect | NC_000005.9:g.(?_7 9107378)_(81714589 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 79,107,378 | 81,714,589 |
| nssv7462806 | Submitted genomic | NC_000005.8:g.(?_7 9143134)_(81750345 _?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 79,143,134 | 81,750,345 |