nsv6135372
- 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:114,302
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: 527 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 527 SVs from 57 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv6135372 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 19,846,187 | 19,846,190 | 19,960,485 | 19,960,488 |
| nsv6135372 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 19,846,296 | 19,846,299 | 19,960,594 | 19,960,597 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17678647 | deletion | SAMN20524662 | Sequencing | Paired-end mapping | 1,603 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv17678647 | Remapped | Perfect | NC_000005.10:g.(19 846187_19846190)_( 19960485_19960488) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 19,846,187 | 19,846,190 | 19,960,485 | 19,960,488 |
| nssv17678647 | Submitted genomic | NC_000005.9:g.(198 46296_19846299)_(1 9960594_19960597)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 19,846,296 | 19,846,299 | 19,960,594 | 19,960,597 |