nsv5598107
- 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:50
- 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: 127 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 124 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 24 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5598107 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 57,745,294 | 57,745,343 | ||
| nsv5598107 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000016.9 | Chr16 | 57,779,206 | 57,779,255 |
| nsv5598107 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871085.1 | Chr16|NW_0 03871085.1 | 5,185 | 5,234 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17086992 | deletion | SAMN00006579 | Sequencing | Sequence alignment | 23,265 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17086992 | Submitted genomic | NC_000016.10:g.577 45294_57745343delA | GRCh38 (hg38) | NC_000016.10 | Chr16 | 57,745,294 | 57,745,343 | ||
| nssv17086992 | Remapped | Perfect | NW_003871085.1:g.5 185_5234delA | GRCh37.p13 | First Pass | NW_003871085.1 | Chr16|NW_0 03871085.1 | 5,185 | 5,234 |
| nssv17086992 | Remapped | Perfect | NC_000016.9:g.5777 9206_57779255delA | GRCh37.p13 | Second Pass | NC_000016.9 | Chr16 | 57,779,206 | 57,779,255 |