nsv3115747
- Organism: Homo sapiens
- Study:nstd145 (Lu et al. 2017)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:23,955
- 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: 858 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 674 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 858 SVs from 83 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3115747 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 72,331,033 | 72,346,029 |
| nsv3115747 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 43,300 | 67,254 |
| nsv3115747 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 72,796,716 | 72,811,712 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14086675 | deletion | sample206 | Oligo aCGH | Probe signal intensity | 96 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14086675 | Remapped | Pass | NW_018654707.1:g.( ?_43300)_(67254_?) del | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 43,300 | 67,254 |
| nssv14086675 | Remapped | Perfect | NC_000001.11:g.(?_ 72331033)_(7234602 9_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,331,033 | 72,346,029 |
| nssv14086675 | Submitted genomic | NC_000001.10:g.(?_ 72796716)_(7281171 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,796,716 | 72,811,712 |