nsv5312249
- 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:2,410
- 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: 89 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 89 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5312249 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000005.10 | Chr5 | 174,091,558 (-2, +2) | 174,093,967 (-4, +2) | ||
| nsv5312249 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 173,518,561 (-2, +2) | 173,520,970 (-4, +2) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16770652 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16770652 | Submitted genomic | NC_000005.10:g.(17 4091556_174091560) _(174093963_174093 969)del | GRCh38.p13 | NC_000005.10 | Chr5 | 174,091,558 (-2, +2) | 174,093,967 (-4, +2) | ||
| nssv16770652 | Remapped | Perfect | NC_000005.9:g.(173 518559_173518563)_ (173520966_1735209 72)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 173,518,561 (-2, +2) | 173,520,970 (-4, +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) |
|---|---|
| nssv16770652 | <0.001 |