nsv3959554
- Organism: Homo sapiens
- Study:nstd168 (Levy-Sakin et al. 2019)
- Variant Type:copy number variation
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:190,222
- Publication(s):Levy-Sakin et al. 2019
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: 381 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 398 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3959554 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 9,141,697 | 9,331,918 | ||
| nsv3959554 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 9,980,530 | 10,170,751 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15209504 | deletion | Optical mapping | Optical mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15209504 | Submitted genomic | NC_000021.9:g.(914 1697_?)_(?_9331918 )del | GRCh38 (hg38) | NC_000021.9 | Chr21 | 9,141,697 | 9,331,918 | ||
| nssv15209504 | Remapped | Perfect | NC_000021.8:g.(998 0530_?)_(?_1017075 1)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 9,980,530 | 10,170,751 |