nsv3215344
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:copy number variation
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:153,878
- 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: 848 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 718 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3215344 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 21,778,920 | 21,932,797 | ||
| nsv3215344 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315950.2 | Chr17|NW_0 03315950.2 | 431,284 | 585,161 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14261559 | deletion | SAMN00001695 | Optical mapping | Optical mapping | Homozygous | 15,732 |
| nssv14261560 | deletion | SAMN00001696 | Optical mapping | Optical mapping | Homozygous | 45,591 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14261559 | Submitted genomic | NC_000017.11:g.(21 778920_?)_(?_21932 797)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 21,778,920 | 21,932,797 | ||
| nssv14261560 | Submitted genomic | NC_000017.11:g.(21 778920_?)_(?_21932 797)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 21,778,920 | 21,932,797 | ||
| nssv14261559 | Remapped | Perfect | NW_003315950.2:g.( 431284_?)_(?_58516 1)del | GRCh37.p13 | First Pass | NW_003315950.2 | Chr17|NW_0 03315950.2 | 431,284 | 585,161 |
| nssv14261560 | Remapped | Perfect | NW_003315950.2:g.( 431284_?)_(?_58516 1)del | GRCh37.p13 | First Pass | NW_003315950.2 | Chr17|NW_0 03315950.2 | 431,284 | 585,161 |