nsv4709453
- Organism: Homo sapiens
- Study:nstd195 (Mwapagha et al. 2021)
- Variant Type:copy number variation
- 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: 236 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 42 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 236 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4709453 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 1,921,504 | 1,921,505 |
| nsv4709453 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654718.1 | Chr12|NW_0 18654718.1 | 263,648 | 263,649 |
| nsv4709453 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 2,030,670 | 2,030,671 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16252128 | deletion | B381 | Sequencing | Paired-end mapping | 1 | 5,743 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16252128 | Remapped | Perfect | NW_018654718.1:g.2 63648_263649del | GRCh38.p12 | Second Pass | NW_018654718.1 | Chr12|NW_0 18654718.1 | 263,648 | 263,649 |
| nssv16252128 | Remapped | Perfect | NC_000012.12:g.192 1504_1921505del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 1,921,504 | 1,921,505 |
| nssv16252128 | Submitted genomic | NC_000012.11:g.203 0670_2030671del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 2,030,670 | 2,030,671 |