nsv5237259
- 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:8,300
- 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: 268 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 262 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 106 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5237259 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000007.14 | Chr7 | 75,762,001 | 75,770,300 | ||
| nsv5237259 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 75,391,319 | 75,399,618 |
| nsv5237259 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 3,291,237 | 3,299,536 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16851766 | copy number variation | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv16851766 | Submitted genomic | GRCh38.p13 | NC_000007.14 | Chr7 | 75,762,001 | 75,770,300 | ||
| nssv16851766 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 3,291,237 | 3,299,536 |
| nssv16851766 | Remapped | Perfect | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 75,391,319 | 75,399,618 |