nsv5585993
- 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:80
- 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: 145 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 154 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 33 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5585993 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 68,322,903 | 68,322,982 | ||
| nsv5585993 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000009.11 | Chr9 | 70,937,819 | 70,937,898 |
| nsv5585993 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871067.1 | Chr9|NW_00 3871067.1 | 102,351 | 102,430 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17162617 | deletion | SAMN00007882 | Sequencing | Sequence alignment | 1,354 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17162617 | Submitted genomic | NC_000009.12:g.683 22903_68322982delC | GRCh38 (hg38) | NC_000009.12 | Chr9 | 68,322,903 | 68,322,982 | ||
| nssv17162617 | Remapped | Perfect | NW_003871067.1:g.1 02351_102430delC | GRCh37.p13 | First Pass | NW_003871067.1 | Chr9|NW_00 3871067.1 | 102,351 | 102,430 |
| nssv17162617 | Remapped | Perfect | NC_000009.11:g.709 37819_70937898delC | GRCh37.p13 | Second Pass | NC_000009.11 | Chr9 | 70,937,819 | 70,937,898 |