nsv5231344
- Organism: Homo sapiens
- Study:nstd204 (Chen et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,798
- Publication(s):Chen 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: 183 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 178 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 45 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5231344 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000007.14 | Chr7 | 75,417,135 | 75,425,932 | ||
| nsv5231344 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 75,046,418 | 75,055,214 |
| nsv5231344 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 2,946,371 | 2,955,168 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16814266 | copy number variation | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv16814266 | Submitted genomic | GRCh38.p13 | NC_000007.14 | Chr7 | 75,417,135 | 75,425,932 | ||
| nssv16814266 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 2,946,371 | 2,955,168 |
| nssv16814266 | Remapped | Good | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 75,046,418 | 75,055,214 |