nsv6134722
- 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:232,512
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: 715 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 715 SVs from 64 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv6134722 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 119,743,269 | 119,743,284 | 119,975,765 | 119,975,780 |
| nsv6134722 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 120,664,424 | 120,664,439 | 120,896,920 | 120,896,935 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17681836 | duplication | SAMN20524660 | Sequencing | Paired-end mapping | 208 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv17681836 | Remapped | Perfect | NC_000004.12:g.(11 9743269_119743284) _(119975765_119975 780)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 119,743,269 | 119,743,284 | 119,975,765 | 119,975,780 |
| nssv17681836 | Submitted genomic | NC_000004.11:g.(12 0664424_120664439) _(120896920_120896 935)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 120,664,424 | 120,664,439 | 120,896,920 | 120,896,935 |