nsv6135270
- Organism: Homo sapiens
- Study:nstd213 (Pham 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:350,002
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 65 studies. See in: genome view
Overlapping variant regions from other studies: 874 SVs from 65 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6135270 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 104,508,843 | 104,858,844 |
| nsv6135270 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 105,430,000 | 105,780,001 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17681282 | copy number loss | SAMN20524655 | Sequencing | Paired-end mapping | 909 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17681282 | Remapped | Perfect | NC_000004.12:g.104 508843_104858844de l | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 104,508,843 | 104,858,844 |
| nssv17681282 | Submitted genomic | NC_000004.11:g.105 430000_105780001de l | GRCh37 (hg19) | NC_000004.11 | Chr4 | 105,430,000 | 105,780,001 |