nsv5247240
- Organism: Homo sapiens
- Study:nstd204 (Chen et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:218,700
- Publication(s):Chen et al. 2021
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: 1303 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1006 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 619 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5247240 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000008.11 | Chr8 | 143,641,501 | 143,860,200 | ||
| nsv5247240 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000008.10 | Chr8 | 144,744,709 | 144,940,217 |
| nsv5247240 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 1 | 198,845 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16860850 | copy number variation | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv16860850 | Submitted genomic | GRCh38.p13 | NC_000008.11 | Chr8 | 143,641,501 | 143,860,200 | ||
| nssv16860850 | Remapped | Pass | GRCh37.p13 | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 1 | 198,845 |
| nssv16860850 | Remapped | Pass | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 144,744,709 | 144,940,217 |