nsv5219408
- 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:12,000
- 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: 604 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 427 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 80 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5219408 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000001.11 | Chr1 | 146,164,401 | 146,176,400 | ||
| nsv5219408 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 145,261,794 | 145,273,794 |
| nsv5219408 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,979,814 | 2,991,813 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16833972 | copy number variation | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv16833972 | Submitted genomic | GRCh38.p13 | NC_000001.11 | Chr1 | 146,164,401 | 146,176,400 | ||
| nssv16833972 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,979,814 | 2,991,813 |
| nssv16833972 | Remapped | Good | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 145,261,794 | 145,273,794 |