nsv6134248
- 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:660,002
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: 1860 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1860 SVs from 86 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6134248 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 70,424,317 | 71,084,318 |
| nsv6134248 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 70,890,000 | 71,550,001 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17679168 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv17679168 | Remapped | Perfect | NC_000001.11:g.704 24317_71084318del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 70,424,317 | 71,084,318 |
| nssv17679168 | Submitted genomic | NC_000001.10:g.708 90000_71550001del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 70,890,000 | 71,550,001 |