nsv4749486
- Organism: Homo sapiens
- Study:nstd199 (Quan et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,367
- Publication(s):Quan et al. 2021
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: 280 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 280 SVs from 63 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4749486 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 789,470 | 791,836 |
| nsv4749486 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 724,850 | 727,216 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16261813 | duplication | Sequencing | Split read mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16261813 | Remapped | Perfect | NC_000001.11:g.789 470_791836dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 789,470 | 791,836 |
| nssv16261813 | Submitted genomic | NC_000001.10:g.724 850_727216dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 724,850 | 727,216 |