nsv3970425
- 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:11,092
- 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: 281 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 281 SVs from 64 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3970425 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 160,634,611 | 160,645,702 | ||
| nsv3970425 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 161,055,643 | 161,066,734 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15215393 | duplication | Optical mapping | Optical mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15215393 | Submitted genomic | NC_000006.12:g.(16 0634611_?)_(?_1606 45702)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 160,634,611 | 160,645,702 | ||
| nssv15215393 | Remapped | Perfect | NC_000006.11:g.(16 1055643_?)_(?_1610 66734)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 161,055,643 | 161,066,734 |