nsv3117064
- 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:29,371
- 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: 234 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 234 SVs from 34 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3117064 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 185,322,574 | 185,351,944 |
| nsv3117064 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 185,291,706 | 185,321,076 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14089527 | deletion | sample239 | Oligo aCGH | Probe signal intensity | 46 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14089527 | Remapped | Perfect | NC_000001.11:g.(?_ 185322574)_(185351 944_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 185,322,574 | 185,351,944 |
| nssv14089527 | Submitted genomic | NC_000001.10:g.(?_ 185291706)_(185321 076_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 185,291,706 | 185,321,076 |