nsv5572534
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:584
- Publication(s):Ebert et al. 2021
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: 165 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 155 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 40 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5572534 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 75,073,566 | 75,074,149 | ||
| nsv5572534 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 74,489,402 | 74,489,985 |
| nsv5572534 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 2,602,802 | 2,603,385 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17144156 | deletion | SAMN00001696 | Sequencing | Sequence alignment | 346 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17144156 | Submitted genomic | NC_000007.14:g.750 73566_75074149delC | GRCh38 (hg38) | NC_000007.14 | Chr7 | 75,073,566 | 75,074,149 | ||
| nssv17144156 | Remapped | Perfect | NW_003871064.1:g.2 602802_2603385delC | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 2,602,802 | 2,603,385 |
| nssv17144156 | Remapped | Perfect | NC_000007.13:g.744 89402_74489985delC | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 74,489,402 | 74,489,985 |