nsv4159740
- Organism: Homo sapiens
- Study:nstd166 (gnomAD Structural Variants)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,998
- 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: 70 SVs from 7 studies. See in: genome view
Overlapping variant regions from other studies: 69 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4159740 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 142,633,558 | 142,639,555 |
| nsv4159740 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000008.10 | Chr8 | 143,714,909 | 143,720,932 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15934593 | deletion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15934593 | Remapped | Good | NC_000008.11:g.142 633558_142639555de l | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,633,558 | 142,639,555 |
| nssv15934593 | Submitted genomic | NC_000008.10:g.143 714909_143720932de l | GRCh37.p13 | NC_000008.10 | Chr8 | 143,714,909 | 143,720,932 |
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) |
|---|---|---|---|
| nssv15934593 | 4.6e-005 | 1 | 21694 |