nsv5311624
- 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:5,144
- 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: 501 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 501 SVs from 58 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5311624 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000016.10 | Chr16 | 1,240,144 (-29, +29) | 1,245,287 (-30, +6) | ||
| nsv5311624 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 1,290,145 (-29, +29) | 1,295,288 (-30, +6) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16743727 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16743727 | Submitted genomic | NC_000016.10:g.(12 40115_1240173)_(12 45257_1245293)del | GRCh38.p13 | NC_000016.10 | Chr16 | 1,240,144 (-29, +29) | 1,245,287 (-30, +6) | ||
| nssv16743727 | Remapped | Perfect | NC_000016.9:g.(129 0116_1290174)_(129 5258_1295294)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 1,290,145 (-29, +29) | 1,295,288 (-30, +6) |
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) |
|---|---|
| nssv16743727 | 0.001 |