nsv5308262
- 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:2,389
- 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: 130 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 130 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5308262 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000006.12 | Chr6 | 30,632,339 (-10, +264) | 30,634,727 (-350, +5) | ||
| nsv5308262 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 30,600,116 (-10, +264) | 30,602,504 (-350, +5) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16769144 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16769144 | Submitted genomic | NC_000006.12:g.(30 632329_30632603)_( 30634377_30634732) del | GRCh38.p13 | NC_000006.12 | Chr6 | 30,632,339 (-10, +264) | 30,634,727 (-350, +5) | ||
| nssv16769144 | Remapped | Perfect | NC_000006.11:g.(30 600106_30600380)_( 30602154_30602509) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 30,600,116 (-10, +264) | 30,602,504 (-350, +5) |
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) |
|---|---|
| nssv16769144 | <0.001 |