nsv5293881
- 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:599
- 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: 572 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 699 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 89 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5293881 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000001.11 | Chr1 | 147,631,820 (-10, +9) | 147,632,418 (-8, +2) | ||
| nsv5293881 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 147,103,618 (-10, +9) | 147,104,214 (-8, +2) |
| nsv5293881 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 4,447,233 (-10, +9) | 4,447,831 (-8, +2) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16739146 | deletion | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16739146 | Submitted genomic | NC_000001.11:g.(14 7631810_147631829) _(147632410_147632 420)del | GRCh38.p13 | NC_000001.11 | Chr1 | 147,631,820 (-10, +9) | 147,632,418 (-8, +2) | ||
| nssv16739146 | Remapped | Perfect | NW_003871055.3:g.( 4447223_4447242)_( 4447823_4447833)de l | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 4,447,233 (-10, +9) | 4,447,831 (-8, +2) |
| nssv16739146 | Remapped | Good | NC_000001.10:g.(14 7103608_147103627) _(147104206_147104 216)del | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 147,103,618 (-10, +9) | 147,104,214 (-8, +2) |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
| Variant Call ID | Allele Frequency (AF) |
|---|---|
| nssv16739146 | <0.001 |