nsv5408375
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:52
- Publication(s):Byrska-Bishop et al. 2022
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: 494 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 472 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 146 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5408375 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 88,054 | 88,105 | ||
| nsv5408375 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000004.11 | Chr4 | 87,942 | 87,993 |
| nsv5408375 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004775427.1 | Chr4|NW_00 4775427.1 | 78,054 | 78,105 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16945573 | alu insertion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16945573 | Submitted genomic | NC_000004.12:g.880 54_88105ins280 | GRCh38 (hg38) | NC_000004.12 | Chr4 | 88,054 | 88,105 | ||
| nssv16945573 | Remapped | Perfect | NW_004775427.1:g.7 8054_78105ins280 | GRCh37.p13 | First Pass | NW_004775427.1 | Chr4|NW_00 4775427.1 | 78,054 | 78,105 |
| nssv16945573 | Remapped | Perfect | NC_000004.11:g.879 42_87993ins280 | GRCh37.p13 | Second Pass | NC_000004.11 | Chr4 | 87,942 | 87,993 |
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) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16945573 | 0.002 | 13 | 6404 |