nsv3117489
- Organism: Homo sapiens
- Study:nstd145 (Lu et al. 2017)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10,405
- Publication(s):Lu et al. 2017
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: 214 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 219 SVs from 47 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3117489 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 231,399,804 | 231,410,208 |
| nsv3117489 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 231,535,550 | 231,545,954 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14089175 | deletion | sample169 | Oligo aCGH | Probe signal intensity | 90 |
| nssv14091373 | deletion | sample299 | Oligo aCGH | Probe signal intensity | 85 |
| nssv14092232 | deletion | sample119 | Oligo aCGH | Probe signal intensity | 87 |
| nssv14092714 | deletion | sample293 | Oligo aCGH | Probe signal intensity | 64 |
| nssv14102695 | deletion | sample418 | Oligo aCGH | Probe signal intensity | 83 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14089175 | Remapped | Perfect | NC_000001.11:g.(?_ 231399804)_(231410 208_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 231,399,804 | 231,410,208 |
| nssv14091373 | Remapped | Perfect | NC_000001.11:g.(?_ 231399804)_(231410 208_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 231,399,804 | 231,410,208 |
| nssv14092232 | Remapped | Perfect | NC_000001.11:g.(?_ 231399804)_(231410 208_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 231,399,804 | 231,410,208 |
| nssv14092714 | Remapped | Perfect | NC_000001.11:g.(?_ 231399804)_(231410 208_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 231,399,804 | 231,410,208 |
| nssv14102695 | Remapped | Perfect | NC_000001.11:g.(?_ 231399804)_(231410 208_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 231,399,804 | 231,410,208 |
| nssv14089175 | Submitted genomic | NC_000001.10:g.(?_ 231535550)_(231545 954_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 231,535,550 | 231,545,954 | ||
| nssv14091373 | Submitted genomic | NC_000001.10:g.(?_ 231535550)_(231545 954_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 231,535,550 | 231,545,954 | ||
| nssv14092232 | Submitted genomic | NC_000001.10:g.(?_ 231535550)_(231545 954_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 231,535,550 | 231,545,954 | ||
| nssv14092714 | Submitted genomic | NC_000001.10:g.(?_ 231535550)_(231545 954_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 231,535,550 | 231,545,954 | ||
| nssv14102695 | Submitted genomic | NC_000001.10:g.(?_ 231535550)_(231545 954_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 231,535,550 | 231,545,954 |