nsv3113593
- 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:4,650
- 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: 117 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 123 SVs from 38 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3113593 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 52,068,792 | 52,073,441 |
| nsv3113593 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 53,828,552 | 53,833,201 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14090159 | deletion | sample143 | Oligo aCGH | Probe signal intensity | 95 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14090159 | Remapped | Perfect | NC_000010.11:g.(?_ 52068792)_(5207344 1_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 52,068,792 | 52,073,441 |
| nssv14090159 | Submitted genomic | NC_000010.10:g.(?_ 53828552)_(5383320 1_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 53,828,552 | 53,833,201 |