nsv4715591
- Organism: Homo sapiens
- Study:nstd195 (Mwapagha et al. 2021)
- Variant Type:tandem duplication
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2
- Publication(s):Mwapagha 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: 141 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 141 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4715591 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 49,878,841 | 49,878,842 |
| nsv4715591 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 50,272,624 | 50,272,625 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16249475 | tandem duplication | B450 | Sequencing | Paired-end mapping | 1 | 4,473 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16249475 | Remapped | Perfect | NC_000012.12:g.498 78841_49878842dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 49,878,841 | 49,878,842 |
| nssv16249475 | Submitted genomic | NC_000012.11:g.502 72624_50272625dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 50,272,624 | 50,272,625 |