nsv4685413
- 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: 122 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 15 SVs from 6 studies. See in: genome view
Overlapping variant regions from other studies: 122 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4685413 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 33,827,168 | 33,827,168 |
| nsv4685413 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187551.1 | Chr5|NT_18 7551.1 | 26,504 | 26,504 |
| nsv4685413 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 33,827,273 | 33,827,273 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16216353 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16216353 | Remapped | Perfect | NT_187551.1:g.2650 4_26505ins2037 | GRCh38.p12 | Second Pass | NT_187551.1 | Chr5|NT_18 7551.1 | 26,504 | 26,504 |
| nssv16216353 | Remapped | Perfect | NC_000005.10:g.338 27168_33827169ins2 037 | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 33,827,168 | 33,827,168 |
| nssv16216353 | Submitted genomic | NC_000005.9:g.3382 7273_33827274ins20 37 | GRCh37 (hg19) | NC_000005.9 | Chr5 | 33,827,273 | 33,827,273 |
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) |
|---|---|
| nssv16216353 | 0.873 |