nsv3240713
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:insertion
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:89,779
- 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: 494 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 494 SVs from 70 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3240713 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 46,285,519 | 46,375,297 | ||
| nsv3240713 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 46,754,722 | 46,844,500 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14258952 | insertion | SAMN00006579 | Optical mapping | Optical mapping | Homozygous | 13,953 |
| nssv14258953 | insertion | SAMN00006580 | Optical mapping | Optical mapping | Heterozygous | 14,212 |
| nssv14258954 | insertion | SAMN00006581 | Optical mapping | Optical mapping | Heterozygous | 41,185 |
| nssv14258955 | insertion | SAMN00001695 | Optical mapping | Optical mapping | Heterozygous | 15,732 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14258952 | Submitted genomic | NC_000014.9:g.(462 85519_?)_(?_463752 97)ins6366 | GRCh38 (hg38) | NC_000014.9 | Chr14 | 46,285,519 | 46,375,297 | ||
| nssv14258953 | Submitted genomic | NC_000014.9:g.(462 85519_?)_(?_463752 97)ins6366 | GRCh38 (hg38) | NC_000014.9 | Chr14 | 46,285,519 | 46,375,297 | ||
| nssv14258954 | Submitted genomic | NC_000014.9:g.(462 85519_?)_(?_463752 97)ins6366 | GRCh38 (hg38) | NC_000014.9 | Chr14 | 46,285,519 | 46,375,297 | ||
| nssv14258955 | Submitted genomic | NC_000014.9:g.(462 85519_?)_(?_463752 97)ins6366 | GRCh38 (hg38) | NC_000014.9 | Chr14 | 46,285,519 | 46,375,297 | ||
| nssv14258952 | Remapped | Perfect | NC_000014.8:g.(467 54722_?)_(?_468445 00)ins6366 | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 46,754,722 | 46,844,500 |
| nssv14258953 | Remapped | Perfect | NC_000014.8:g.(467 54722_?)_(?_468445 00)ins6366 | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 46,754,722 | 46,844,500 |
| nssv14258954 | Remapped | Perfect | NC_000014.8:g.(467 54722_?)_(?_468445 00)ins6366 | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 46,754,722 | 46,844,500 |
| nssv14258955 | Remapped | Perfect | NC_000014.8:g.(467 54722_?)_(?_468445 00)ins6366 | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 46,754,722 | 46,844,500 |