nsv5599270
- 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:130
- 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: 134 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 175 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 3 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5599270 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 49,965,465 | 49,965,594 | ||
| nsv5599270 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000010.10 | Chr10 | 51,725,225 | 51,725,354 |
| nsv5599270 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004504302.1 | Chr10|NW_0 04504302.1 | 144,640 | 144,769 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17070794 | deletion | SAMN00006466 | Sequencing | Sequence alignment | 4,625 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17070794 | Submitted genomic | NC_000010.11:g.499 65465_49965594delG | GRCh38 (hg38) | NC_000010.11 | Chr10 | 49,965,465 | 49,965,594 | ||
| nssv17070794 | Remapped | Perfect | NW_004504302.1:g.1 44640_144769delG | GRCh37.p13 | First Pass | NW_004504302.1 | Chr10|NW_0 04504302.1 | 144,640 | 144,769 |
| nssv17070794 | Remapped | Perfect | NC_000010.10:g.517 25225_51725354delG | GRCh37.p13 | Second Pass | NC_000010.10 | Chr10 | 51,725,225 | 51,725,354 |