nsv4685254
- Organism: Homo sapiens
- Study:nstd194 (Lee et al. 2020)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Lee et al. 2020
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: 299 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 299 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4685254 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 21,708,297 | 21,708,297 |
| nsv4685254 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 23,080,617 | 23,080,617 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16216192 | insertion | Sequencing | de novo and local sequence assembly |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16216192 | Remapped | Perfect | NC_000021.9:g.2170 8297_21708298ins11 8 | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 21,708,297 | 21,708,297 |
| nssv16216192 | Submitted genomic | NC_000021.8:g.2308 0617_23080618ins11 8 | GRCh37 (hg19) | NC_000021.8 | Chr21 | 23,080,617 | 23,080,617 |
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) |
|---|---|
| nssv16216192 | 0.749 |