nsv3241291
- 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:150,197
- 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: 1229 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 1236 SVs from 65 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3241291 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 38,482,176 | 38,632,372 | ||
| nsv3241291 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 38,771,104 | 38,925,503 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14253796 | insertion | HG00512 | Optical mapping | Optical mapping | Homozygous | 13,827 |
| nssv14253797 | insertion | SAMN00001696 | Optical mapping | Optical mapping | Homozygous | 45,591 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14253796 | Submitted genomic | NC_000010.11:g.(38 482176_?)_(?_38632 372)ins27200 | GRCh38 (hg38) | NC_000010.11 | Chr10 | 38,482,176 | 38,632,372 | ||
| nssv14253797 | Submitted genomic | NC_000010.11:g.(38 482176_?)_(?_38632 372)ins27200 | GRCh38 (hg38) | NC_000010.11 | Chr10 | 38,482,176 | 38,632,372 | ||
| nssv14253796 | Remapped | Good | NC_000010.10:g.(38 771104_?)_(?_38925 503)ins27200 | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 38,771,104 | 38,925,503 |
| nssv14253797 | Remapped | Good | NC_000010.10:g.(38 771104_?)_(?_38925 503)ins27200 | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 38,771,104 | 38,925,503 |