nsv6133311
- Organism: Homo sapiens
- Study:nstd213 (Pham et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:790,002
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: 2772 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 2770 SVs from 79 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6133311 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 43,892,632 | 44,682,633 |
| nsv6133311 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 41,970,000 | 42,760,001 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17678227 | copy number loss | SAMN20524660 | Sequencing | Paired-end mapping | 208 |
| nssv17679960 | copy number loss | SAMN20524659 | Sequencing | Paired-end mapping | 203 |
| nssv17681921 | copy number loss | SAMN20524658 | Sequencing | Paired-end mapping | 48 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17678227 | Remapped | Perfect | NC_000017.11:g.438 92632_44682633del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 43,892,632 | 44,682,633 |
| nssv17679960 | Remapped | Perfect | NC_000017.11:g.438 92632_44682633del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 43,892,632 | 44,682,633 |
| nssv17681921 | Remapped | Perfect | NC_000017.11:g.438 92632_44682633del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 43,892,632 | 44,682,633 |
| nssv17678227 | Submitted genomic | NC_000017.10:g.419 70000_42760001del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 41,970,000 | 42,760,001 | ||
| nssv17679960 | Submitted genomic | NC_000017.10:g.419 70000_42760001del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 41,970,000 | 42,760,001 | ||
| nssv17681921 | Submitted genomic | NC_000017.10:g.419 70000_42760001del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 41,970,000 | 42,760,001 |