nsv4750029
- 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:3,097
- 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: 666 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 598 SVs from 50 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4750029 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 80,071,152 | 80,074,248 |
| nsv4750029 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 77,831,152 | 77,832,551 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16276290 | duplication | Sequencing | Split read mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16276290 | Remapped | Pass | NC_000018.10:g.800 71152_80074248dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 80,071,152 | 80,074,248 |
| nssv16276290 | Submitted genomic | NC_000018.9:g.7783 1152_77832551dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 77,831,152 | 77,832,551 |