nsv5200272
- Organism: Homo sapiens
- Study:nstd205 (Kwong et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:136,250
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: 874 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 871 SVs from 62 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5200272 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 43,090,168 | 43,226,417 |
| nsv5200272 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000017.10 | Chr17 | 41,242,185 | 41,378,464 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv16736562 | deletion | 2 | Sequencing | Split read mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16736562 | Remapped | Good | NC_000017.11:g.430 90168_43226417del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 43,090,168 | 43,226,417 |
| nssv16736562 | Submitted genomic | NC_000017.10:g.412 42185_41378464del | GRCh37.p13 | NC_000017.10 | Chr17 | 41,242,185 | 41,378,464 |