nsv6134594
- Organism: Homo sapiens
- Study:nstd213 (Pham et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:121,105
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: 486 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 486 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv6134594 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 183,603,472 | 183,603,475 | 183,724,573 | 183,724,576 |
| nsv6134594 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 184,468,200 | 184,468,203 | 184,589,301 | 184,589,304 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17678516 | duplication | SAMN20524656 | Sequencing | Paired-end mapping | 419 |
| nssv17683032 | duplication | SAMN20524657 | Sequencing | Paired-end mapping | 656 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv17678516 | Remapped | Perfect | NC_000002.12:g.(18 3603472_183603475) _(183724573_183724 576)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,603,472 | 183,603,475 | 183,724,573 | 183,724,576 |
| nssv17683032 | Remapped | Perfect | NC_000002.12:g.(18 3603472_183603475) _(183724573_183724 576)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 183,603,472 | 183,603,475 | 183,724,573 | 183,724,576 |
| nssv17678516 | Submitted genomic | NC_000002.11:g.(18 4468200_184468203) _(184589301_184589 304)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,468,200 | 184,468,203 | 184,589,301 | 184,589,304 | ||
| nssv17683032 | Submitted genomic | NC_000002.11:g.(18 4468200_184468203) _(184589301_184589 304)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 184,468,200 | 184,468,203 | 184,589,301 | 184,589,304 |