nsv3565579
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- 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: 444 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 440 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 32 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3565579 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 148,588,241 (-15, +15) | 148,588,241 (-15, +15) | ||
| nsv3565579 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 147,669,762 (-15, +15) | 147,669,762 (-15, +15) |
| nsv3565579 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 4,112,635 (-15, +15) | 4,112,635 (-15, +15) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14354181 | line1 insertion | SAMN00001694 | Sequencing | Sequence alignment | Heterozygous | 16,419 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14354181 | Submitted genomic | NC_000023.11:g.(14 8588226_148588256) _(148588226_148588 256)ins526 | GRCh38 (hg38) | NC_000023.11 | ChrX | 148,588,241 (-15, +15) | 148,588,241 (-15, +15) | ||
| nssv14354181 | Remapped | Perfect | NW_004070890.2:g.( 4112620_4112650)_( 4112620_4112650)in s526 | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 4,112,635 (-15, +15) | 4,112,635 (-15, +15) |
| nssv14354181 | Remapped | Perfect | NC_000023.10:g.(14 7669747_147669777) _(147669747_147669 777)ins526 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 147,669,762 (-15, +15) | 147,669,762 (-15, +15) |