nsv3215083
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:insertion
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:91,300
- 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: 1668 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 1664 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 491 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3215083 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 943,490 | 1,034,789 | ||
| nsv3215083 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 904,225 | 995,524 |
| nsv3215083 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003571064.2 | ChrX|NW_00 3571064.2 | 100,348 | 191,647 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14271152 | insertion | SAMN00006580 | Optical mapping | Optical mapping | Heterozygous | 14,212 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14271152 | Submitted genomic | NC_000023.11:g.(94 3490_?)_(?_1034789 )ins146 | GRCh38 (hg38) | NC_000023.11 | ChrX | 943,490 | 1,034,789 | ||
| nssv14271152 | Remapped | Perfect | NW_003571064.2:g.( 100348_?)_(?_19164 7)ins146 | GRCh37.p13 | First Pass | NW_003571064.2 | ChrX|NW_00 3571064.2 | 100,348 | 191,647 |
| nssv14271152 | Remapped | Perfect | NC_000023.10:g.(90 4225_?)_(?_995524) ins146 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 904,225 | 995,524 |