nsv5322846
- 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:870
- 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: 318 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 318 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5322846 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000021.9 | Chr21 | 17,444,191 (-9, +9) | 17,445,060 (-10, +4) | ||
| nsv5322846 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 18,816,509 (-9, +9) | 18,817,378 (-10, +4) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16774841 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16774841 | Submitted genomic | NC_000021.9:g.(174 44182_17444200)_(1 7445050_17445064)d el | GRCh38.p13 | NC_000021.9 | Chr21 | 17,444,191 (-9, +9) | 17,445,060 (-10, +4) | ||
| nssv16774841 | Remapped | Perfect | NC_000021.8:g.(188 16500_18816518)_(1 8817368_18817382)d el | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 18,816,509 (-9, +9) | 18,817,378 (-10, +4) |
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) |
|---|---|
| nssv16774841 | <0.001 |