nsv3245723
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Optical mapping, Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,074
- Description:Absence of a 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: 646 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 620 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 133 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3245723 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 155,560,515 | 155,573,588 | ||
| nsv3245723 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 154,790,176 | 154,803,249 |
| nsv3245723 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 2,994,494 | 3,007,567 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14439343 | mobile element deletion | SAMN00006581 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 41,185 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14439343 | Submitted genomic | NC_000023.11:g.155 560515_155573588de l13073 | GRCh38 (hg38) | NC_000023.11 | ChrX | 155,560,515 | 155,573,588 | ||
| nssv14439343 | Remapped | Perfect | NW_003871103.3:g.2 994494_3007567del1 3073 | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 2,994,494 | 3,007,567 |
| nssv14439343 | Remapped | Perfect | NC_000023.10:g.154 790176_154803249de l13073 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 154,790,176 | 154,803,249 |