nsv5317514
- 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:184
- 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: 136 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 136 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5317514 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000012.12 | Chr12 | 122,210,640 (-6, +5) | 122,210,823 (-5, +4) | ||
| nsv5317514 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 122,695,187 (-6, +5) | 122,695,370 (-5, +4) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16749564 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16749564 | Submitted genomic | NC_000012.12:g.(12 2210634_122210645) _(122210818_122210 827)dup | GRCh38.p13 | NC_000012.12 | Chr12 | 122,210,640 (-6, +5) | 122,210,823 (-5, +4) | ||
| nssv16749564 | Remapped | Perfect | NC_000012.11:g.(12 2695181_122695192) _(122695365_122695 374)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 122,695,187 (-6, +5) | 122,695,370 (-5, +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) |
|---|---|
| nssv16749564 | <0.001 |