nsv3970047
- Organism: Homo sapiens
- Study:nstd168 (Levy-Sakin et al. 2019)
- Variant Type:insertion
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:21,223
- 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: 156 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 164 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3970047 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 154,973,888 | 154,995,110 | ||
| nsv3970047 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 154,946,364 | 154,967,586 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15217209 | insertion | Optical mapping | Optical mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15217209 | Submitted genomic | NC_000001.11:g.(15 4973888_?)_(?_1549 95110)ins2045 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 154,973,888 | 154,995,110 | ||
| nssv15217209 | Remapped | Perfect | NC_000001.10:g.(15 4946364_?)_(?_1549 67586)ins2045 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 154,946,364 | 154,967,586 |