nsv5594157
- 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:419
- 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: 238 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 230 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 38 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5594157 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 4,970,549 | 4,970,967 | ||
| nsv5594157 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000010.10 | Chr10 | 5,012,741 | 5,013,159 |
| nsv5594157 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871071.1 | Chr10|NW_0 03871071.1 | 215 | 633 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17070640 | deletion | SAMN00006580 | Sequencing | Sequence alignment | 9,409 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17070640 | Submitted genomic | NC_000010.11:g.497 0549_4970967delT | GRCh38 (hg38) | NC_000010.11 | Chr10 | 4,970,549 | 4,970,967 | ||
| nssv17070640 | Remapped | Perfect | NW_003871071.1:g.2 15_633delT | GRCh37.p13 | First Pass | NW_003871071.1 | Chr10|NW_0 03871071.1 | 215 | 633 |
| nssv17070640 | Remapped | Perfect | NC_000010.10:g.501 2741_5013159delT | GRCh37.p13 | Second Pass | NC_000010.10 | Chr10 | 5,012,741 | 5,013,159 |