nsv3246728
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:sequence alteration
- Method Type:Optical mapping, Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,490
- Description:Deletion variant involving LTR satellite DNA
- 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: 166 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 45 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3246728 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 58,327,458 | 58,335,947 | ||
| nsv3246728 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 58,721,241 | 58,729,730 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14450222 | sequence alteration | 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 | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv14450222 | Submitted genomic | GRCh38 (hg38) | NC_000012.12 | Chr12 | 58,327,458 | 58,335,947 | ||
| nssv14450222 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 58,721,241 | 58,729,730 |