nsv5960679
- 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:6,103
- 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: 871 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 811 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 31 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5960679 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 19,257,319 | 19,263,421 | ||
| nsv5960679 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000022.10 | Chr22 | 19,244,842 | 19,250,944 |
| nsv5960679 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871096.1 | Chr22|NW_0 03871096.1 | 110,536 | 116,638 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17407230 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17407230 | Submitted genomic | NC_000022.11:g.192 57319_19263421del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 19,257,319 | 19,263,421 | ||
| nssv17407230 | Remapped | Perfect | NW_003871096.1:g.1 10536_116638del | GRCh37.p13 | First Pass | NW_003871096.1 | Chr22|NW_0 03871096.1 | 110,536 | 116,638 |
| nssv17407230 | Remapped | Perfect | NC_000022.10:g.192 44842_19250944del | GRCh37.p13 | Second Pass | NC_000022.10 | Chr22 | 19,244,842 | 19,250,944 |