nsv5603501
- Organism: Homo sapiens
- Study:nstd207 (Ebert 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:507,767
- Publication(s):Ebert 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: 2871 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 1135 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1594 SVs from 56 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5603501 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 47,482,072 | 47,989,838 | ||
| nsv5603501 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000010.10 | Chr10 | 47,746,310 | 48,254,623 |
| nsv5603501 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003871068.1 | Chr10|NW_0 03871068.1 | 1,753,187 | 2,179,734 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17070756 | Submitted genomic | NC_000010.11:g.474 82072_47989838delA | GRCh38 (hg38) | NC_000010.11 | Chr10 | 47,482,072 | 47,989,838 | ||
| nssv17070756 | Remapped | Pass | NW_003871068.1:g.1 753187_2179734delA | GRCh37.p13 | First Pass | NW_003871068.1 | Chr10|NW_0 03871068.1 | 1,753,187 | 2,179,734 |
| nssv17070756 | Remapped | Good | NC_000010.10:g.477 46310_48254623delA | GRCh37.p13 | Second Pass | NC_000010.10 | Chr10 | 47,746,310 | 48,254,623 |