nsv3961512
- 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:19,831
- 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: 136 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 148 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3961512 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 153,356,142 | 153,375,972 | ||
| nsv3961512 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 153,328,618 | 153,348,448 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15216417 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv15216417 | Submitted genomic | NC_000001.11:g.(15 3356142_?)_(?_1533 75972)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 153,356,142 | 153,375,972 | ||
| nssv15216417 | Remapped | Perfect | NC_000001.10:g.(15 3328618_?)_(?_1533 48448)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 153,328,618 | 153,348,448 |