nsv3170362
- Organism: Homo sapiens
- Study:nstd153 (Szafranski et al. 2018)
- Variant Type:copy number variation
- Method Type:Oligo aCGH, PCR, Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:853,430
- Publication(s):Szafranski et al. 2018
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: 3020 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 3020 SVs from 99 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3170362 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 86,250,711 | 87,104,140 |
| nsv3170362 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 86,284,317 | 87,137,746 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv14252581 | copy number loss | 158.30 | Oligo aCGH, PCR, Sequencing | Manual observation, Probe signal intensity, Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14252581 | Remapped | Perfect | NC_000016.10:g.862 50711_87104140del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 86,250,711 | 87,104,140 |
| nssv14252581 | Submitted genomic | NC_000016.9:g.8628 4317_87137746del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 86,284,317 | 87,137,746 |