nsv3565740
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:Insertion of a L1 mobile element relative to 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: 445 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 445 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3565740 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 112,314,530 (-15, +15) | 112,314,530 (-15, +15) | ||
| nsv3565740 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 111,557,758 (-15, +15) | 111,557,758 (-15, +15) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14353900 | line1 insertion | SAMN00006580 | Sequencing | Sequence alignment | Heterozygous | 14,212 |
| nssv14353901 | line1 insertion | SAMN00006581 | Sequencing | Sequence alignment | Heterozygous | 41,185 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14353900 | Submitted genomic | NC_000023.11:g.(11 2314515_112314545) _(112314515_112314 545)ins6019 | GRCh38 (hg38) | NC_000023.11 | ChrX | 112,314,530 (-15, +15) | 112,314,530 (-15, +15) | ||
| nssv14353901 | Submitted genomic | NC_000023.11:g.(11 2314515_112314545) _(112314515_112314 545)ins6019 | GRCh38 (hg38) | NC_000023.11 | ChrX | 112,314,530 (-15, +15) | 112,314,530 (-15, +15) | ||
| nssv14353900 | Remapped | Perfect | NC_000023.10:g.(11 1557743_111557773) _(111557743_111557 773)ins6019 | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 111,557,758 (-15, +15) | 111,557,758 (-15, +15) |
| nssv14353901 | Remapped | Perfect | NC_000023.10:g.(11 1557743_111557773) _(111557743_111557 773)ins6019 | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 111,557,758 (-15, +15) | 111,557,758 (-15, +15) |