nsv5943104
- Organism: Homo sapiens
- Study:nstd209 (Almarri et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:106,235
- Publication(s):Almarri et al. 2020
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: 1757 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 716 SVs from 42 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5943104 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 36,084,088 | 36,190,322 | ||
| nsv5943104 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003315949.1 | Chr17|NW_0 03315949.1 | 1 | 65,496 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17377105 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17377105 | Submitted genomic | NC_000017.11:g.360 84088_36190322del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 36,084,088 | 36,190,322 | ||
| nssv17377105 | Remapped | Pass | NW_003315949.1:g.1 _65496del | GRCh37.p13 | First Pass | NW_003315949.1 | Chr17|NW_0 03315949.1 | 1 | 65,496 |