nsv4485565
- Organism: Homo sapiens
- Study:nstd166 (gnomAD Structural Variants)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):gnomAD_Structural_Variants
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: 85 SVs from 7 studies. See in: genome view
Overlapping variant regions from other studies: 8 SVs from 3 studies. See in: genome view
Overlapping variant regions from other studies: 78 SVs from 6 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4485565 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 143,796,077 | 143,796,077 |
| nsv4485565 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187571.1 | Chr8|NT_18 7571.1 | 273,124 | 273,124 |
| nsv4485565 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000008.10 | Chr8 | 144,878,247 | 144,878,247 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16084475 | alu insertion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16084475 | Remapped | Perfect | NT_187571.1:g.2731 24_273125ins281 | GRCh38.p12 | Second Pass | NT_187571.1 | Chr8|NT_18 7571.1 | 273,124 | 273,124 |
| nssv16084475 | Remapped | Perfect | NC_000008.11:g.143 796077_143796078in s281 | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 143,796,077 | 143,796,077 |
| nssv16084475 | Submitted genomic | NC_000008.10:g.144 878247_144878248in s281 | GRCh37.p13 | NC_000008.10 | Chr8 | 144,878,247 | 144,878,247 |
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) |
|---|---|---|---|
| nssv16084475 | 4.6e-005 | 1 | 21694 |