nsv5911264
- Organism: Homo sapiens
- Study:nstd209 (Almarri et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,626
- 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: 229 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 223 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 92 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5911264 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 75,787,404 | 75,791,029 | ||
| nsv5911264 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 75,416,722 | 75,420,347 |
| nsv5911264 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 3,316,640 | 3,320,265 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17445100 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17445100 | Submitted genomic | NC_000007.14:g.757 87404_75791029del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 75,787,404 | 75,791,029 | ||
| nssv17445100 | Remapped | Perfect | NW_003871064.1:g.3 316640_3320265del | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 3,316,640 | 3,320,265 |
| nssv17445100 | Remapped | Perfect | NC_000007.13:g.754 16722_75420347del | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 75,416,722 | 75,420,347 |