nsv3250220
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,066
- Description:Absence of a L1HS mobile element insertion that is present in the reference
- 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: 263 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 263 SVs from 49 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3250220 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 83,637,241 (-3, +4) | 83,643,306 (-9, +13) | ||
| nsv3250220 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 83,670,846 (-3, +4) | 83,676,911 (-9, +13) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14373479 | line1 deletion | SAMN00001694 | Sequencing | Sequence alignment | Heterozygous | 16,419 |
| nssv14375003 | line1 deletion | SAMN00006466 | Sequencing | Sequence alignment | Heterozygous | 14,137 |
| nssv14385379 | line1 deletion | SAMN00001695 | Sequencing | Sequence alignment | Heterozygous | 15,732 |
| nssv14388545 | line1 deletion | SAMN00001696 | Sequencing | Sequence alignment | Heterozygous | 45,591 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14373479 | Submitted genomic | NC_000016.10:g.(83 637238_83637245)_( 83643297_83643319) del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 83,637,241 (-3, +4) | 83,643,306 (-9, +13) | ||
| nssv14375003 | Submitted genomic | NC_000016.10:g.(83 637238_83637245)_( 83643297_83643319) del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 83,637,241 (-3, +4) | 83,643,306 (-9, +13) | ||
| nssv14385379 | Submitted genomic | NC_000016.10:g.(83 637238_83637245)_( 83643297_83643319) del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 83,637,241 (-3, +4) | 83,643,306 (-9, +13) | ||
| nssv14388545 | Submitted genomic | NC_000016.10:g.(83 637238_83637245)_( 83643297_83643319) del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 83,637,241 (-3, +4) | 83,643,306 (-9, +13) | ||
| nssv14373479 | Remapped | Perfect | NC_000016.9:g.(836 70843_83670850)_(8 3676902_83676924)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 83,670,846 (-3, +4) | 83,676,911 (-9, +13) |
| nssv14375003 | Remapped | Perfect | NC_000016.9:g.(836 70843_83670850)_(8 3676902_83676924)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 83,670,846 (-3, +4) | 83,676,911 (-9, +13) |
| nssv14385379 | Remapped | Perfect | NC_000016.9:g.(836 70843_83670850)_(8 3676902_83676924)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 83,670,846 (-3, +4) | 83,676,911 (-9, +13) |
| nssv14388545 | Remapped | Perfect | NC_000016.9:g.(836 70843_83670850)_(8 3676902_83676924)d el | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 83,670,846 (-3, +4) | 83,676,911 (-9, +13) |