nsv5230591
- 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:2,024
- 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: 407 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 375 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 138 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5230591 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000007.14 | Chr7 | 74,232,789 | 74,234,812 | ||
| nsv5230591 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 73,647,119 | 73,649,142 |
| nsv5230591 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 1,762,025 | 1,764,048 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16814914 | copy number variation | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv16814914 | Submitted genomic | GRCh38.p13 | NC_000007.14 | Chr7 | 74,232,789 | 74,234,812 | ||
| nssv16814914 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 1,762,025 | 1,764,048 |
| nssv16814914 | Remapped | Perfect | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 73,647,119 | 73,649,142 |