nsv5604258
- 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:66
- 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: 118 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 13 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5604258 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 116,633,719 | 116,633,784 | ||
| nsv5604258 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000010.10 | Chr10 | 118,393,230 | 118,393,295 |
| nsv5604258 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871069.1 | Chr10|NW_0 03871069.1 | 44,715 | 44,780 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17067554 | Submitted genomic | NC_000010.11:g.116 633719_116633784de lT | GRCh38 (hg38) | NC_000010.11 | Chr10 | 116,633,719 | 116,633,784 | ||
| nssv17067554 | Remapped | Perfect | NW_003871069.1:g.4 4715_44780delT | GRCh37.p13 | First Pass | NW_003871069.1 | Chr10|NW_0 03871069.1 | 44,715 | 44,780 |
| nssv17067554 | Remapped | Perfect | NC_000010.10:g.118 393230_118393295de lT | GRCh37.p13 | Second Pass | NC_000010.10 | Chr10 | 118,393,230 | 118,393,295 |