nsv5576553
- 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:86
- 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: 86 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 173 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 9 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5576553 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 149,801,061 | 149,801,146 | ||
| nsv5576553 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 149,772,617 | 149,772,702 |
| nsv5576553 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 6,616,474 | 6,616,559 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17060616 | deletion | SAMN00000485 | Sequencing | Sequence alignment | 1,404 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17060616 | Submitted genomic | NC_000001.11:g.149 801061_149801146de lG | GRCh38 (hg38) | NC_000001.11 | Chr1 | 149,801,061 | 149,801,146 | ||
| nssv17060616 | Remapped | Perfect | NW_003871055.3:g.6 616474_6616559delG | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 6,616,474 | 6,616,559 |
| nssv17060616 | Remapped | Perfect | NC_000001.10:g.149 772617_149772702de lG | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 149,772,617 | 149,772,702 |