nsv5289769
- 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:331,725
- 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: 739 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 741 SVs from 67 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5289769 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000001.11 | Chr1 | 175,460,980 (-3, +1) | 175,792,704 (-3, +2) | ||
| nsv5289769 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 175,430,116 (-3, +1) | 175,761,840 (-3, +2) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16752855 | duplication | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16752855 | Submitted genomic | NC_000001.11:g.(17 5460977_175460981) _(175792701_175792 706)dup | GRCh38.p13 | NC_000001.11 | Chr1 | 175,460,980 (-3, +1) | 175,792,704 (-3, +2) | ||
| nssv16752855 | Remapped | Perfect | NC_000001.10:g.(17 5430113_175430117) _(175761837_175761 842)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 175,430,116 (-3, +1) | 175,761,840 (-3, +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) |
|---|---|
| nssv16752855 | 0.002 |