nsv3227198
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:insertion
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:146,268
- Publication(s):Chaisson 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: 2318 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 2318 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3227198 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 158,224,265 | 158,370,532 | ||
| nsv3227198 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 158,016,957 | 158,163,224 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14279509 | insertion | HG00512 | Optical mapping | Optical mapping | Homozygous | 13,827 |
| nssv14279510 | insertion | SAMN00006580 | Optical mapping | Optical mapping | Homozygous | 14,212 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14279509 | Submitted genomic | NC_000007.14:g.(15 8224265_?)_(?_1583 70532)ins5455 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 158,224,265 | 158,370,532 | ||
| nssv14279510 | Submitted genomic | NC_000007.14:g.(15 8224265_?)_(?_1583 70532)ins5455 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 158,224,265 | 158,370,532 | ||
| nssv14279509 | Remapped | Perfect | NC_000007.13:g.(15 8016957_?)_(?_1581 63224)ins5455 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 158,016,957 | 158,163,224 |
| nssv14279510 | Remapped | Perfect | NC_000007.13:g.(15 8016957_?)_(?_1581 63224)ins5455 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 158,016,957 | 158,163,224 |