nsv5918002
- Organism: Homo sapiens
- Study:nstd209 (Almarri et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,018
- Publication(s):Almarri 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: 173 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 162 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 31 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5918002 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 75,585,276 | 75,586,293 | ||
| nsv5918002 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 75,214,594 | 75,215,611 |
| nsv5918002 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 3,114,512 | 3,115,529 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17440606 | deletion | Sequencing | Sequence alignment |
| nssv17440744 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17440606 | Submitted genomic | NC_000007.14:g.755 85276_75586293del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 75,585,276 | 75,586,293 | ||
| nssv17440744 | Submitted genomic | NC_000007.14:g.755 85276_75586293dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 75,585,276 | 75,586,293 | ||
| nssv17440606 | Remapped | Perfect | NW_003871064.1:g.3 114512_3115529del | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 3,114,512 | 3,115,529 |
| nssv17440744 | Remapped | Perfect | NW_003871064.1:g.3 114512_3115529dup | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 3,114,512 | 3,115,529 |
| nssv17440606 | Remapped | Perfect | NC_000007.13:g.752 14594_75215611del | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 75,214,594 | 75,215,611 |
| nssv17440744 | Remapped | Perfect | NC_000007.13:g.752 14594_75215611dup | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 75,214,594 | 75,215,611 |
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) |
|---|---|---|---|
| nssv17440744 | 0.001 | 1 | 1732 |