nsv6132854
- Organism: Homo sapiens
- Study:nstd213 (Pham et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:137,254
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: 397 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 397 SVs from 54 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv6132854 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 74,912,440 | 74,912,455 | 75,049,678 | 75,049,693 |
| nsv6132854 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 75,379,143 | 75,379,158 | 75,516,381 | 75,516,396 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17682687 | duplication | SAMN20524660 | Sequencing | Paired-end mapping | 208 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv17682687 | Remapped | Perfect | NC_000014.9:g.(749 12440_74912455)_(7 5049678_75049693)d up | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 74,912,440 | 74,912,455 | 75,049,678 | 75,049,693 |
| nssv17682687 | Submitted genomic | NC_000014.8:g.(753 79143_75379158)_(7 5516381_75516396)d up | GRCh37 (hg19) | NC_000014.8 | Chr14 | 75,379,143 | 75,379,158 | 75,516,381 | 75,516,396 |