nsv5234255
- 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:5,300
- 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: 165 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 160 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 44 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5234255 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000007.14 | Chr7 | 75,417,101 | 75,422,400 | ||
| nsv5234255 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 75,046,384 | 75,051,683 |
| nsv5234255 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 2,946,337 | 2,951,636 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16852254 | copy number variation | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv16852254 | Submitted genomic | GRCh38.p13 | NC_000007.14 | Chr7 | 75,417,101 | 75,422,400 | ||
| nssv16852254 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 2,946,337 | 2,951,636 |
| nssv16852254 | Remapped | Perfect | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 75,046,384 | 75,051,683 |