nsv5200269
- 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:1,163
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: 258 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 256 SVs from 29 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5200269 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 43,056,644 | 43,057,806 |
nsv5200269 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000017.10 | Chr17 | 41,208,661 | 41,209,823 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis |
---|---|---|---|---|
nssv16736571 | deletion | 11 | Sequencing | Split read mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16736571 | Remapped | Perfect | NC_000017.11:g.430 56644_43057806del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 43,056,644 | 43,057,806 |
nssv16736571 | Submitted genomic | NC_000017.10:g.412 08661_41209823del | GRCh37.p13 | NC_000017.10 | Chr17 | 41,208,661 | 41,209,823 |