nsv3213807
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:insertion
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:92,040
- 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: 1393 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1389 SVs from 83 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3213807 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 87,341,858 | 87,433,897 | ||
| nsv3213807 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 87,568,981 | 87,661,020 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14266549 | insertion | HG00512 | Optical mapping | Optical mapping | Homozygous | 13,827 |
| nssv14266550 | insertion | SAMN00006581 | Optical mapping | Optical mapping | Homozygous | 41,185 |
| nssv14266551 | insertion | SAMN00001696 | Optical mapping | Optical mapping | Heterozygous | 45,591 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14266549 | Submitted genomic | NC_000002.12:g.(87 341858_?)_(?_87433 897)ins18296 | GRCh38 (hg38) | NC_000002.12 | Chr2 | 87,341,858 | 87,433,897 | ||
| nssv14266550 | Submitted genomic | NC_000002.12:g.(87 341858_?)_(?_87433 897)ins18296 | GRCh38 (hg38) | NC_000002.12 | Chr2 | 87,341,858 | 87,433,897 | ||
| nssv14266551 | Submitted genomic | NC_000002.12:g.(87 341858_?)_(?_87433 897)ins18296 | GRCh38 (hg38) | NC_000002.12 | Chr2 | 87,341,858 | 87,433,897 | ||
| nssv14266549 | Remapped | Perfect | NC_000002.11:g.(87 568981_?)_(?_87661 020)ins18296 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,568,981 | 87,661,020 |
| nssv14266550 | Remapped | Perfect | NC_000002.11:g.(87 568981_?)_(?_87661 020)ins18296 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,568,981 | 87,661,020 |
| nssv14266551 | Remapped | Perfect | NC_000002.11:g.(87 568981_?)_(?_87661 020)ins18296 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,568,981 | 87,661,020 |