nsv5601209
- 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:302
- 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: 98 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 98 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5601209 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 54,414,587 | 54,414,888 | ||
| nsv5601209 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 54,808,371 | 54,808,672 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17092650 | deletion | SAMN01096687 | Sequencing | Sequence alignment | 1,334 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17092650 | Submitted genomic | NC_000012.12:g.544 14587_54414888delC | GRCh38 (hg38) | NC_000012.12 | Chr12 | 54,414,587 | 54,414,888 | ||
| nssv17092650 | Remapped | Perfect | NC_000012.11:g.548 08371_54808672delC | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 54,808,371 | 54,808,672 |