nsv6134772
- 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:68,005
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: 312 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 149 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 312 SVs from 48 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv6134772 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 175,441,957 | 175,441,958 | 175,509,945 | 175,509,961 |
| nsv6134772 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_019805489.1 | Chr3|NW_01 9805489.1 | 115,469 | 115,470 | 183,457 | 183,473 |
| nsv6134772 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 175,159,745 | 175,159,746 | 175,227,733 | 175,227,749 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17681780 | deletion | SAMN20524659 | Sequencing | Paired-end mapping | 203 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv17681780 | Remapped | Perfect | NW_019805489.1:g.( 115469_115470)_(18 3457_183473)del | GRCh38.p12 | Second Pass | NW_019805489.1 | Chr3|NW_01 9805489.1 | 115,469 | 115,470 | 183,457 | 183,473 |
| nssv17681780 | Remapped | Perfect | NC_000003.12:g.(17 5441957_175441958) _(175509945_175509 961)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 175,441,957 | 175,441,958 | 175,509,945 | 175,509,961 |
| nssv17681780 | Submitted genomic | NC_000003.11:g.(17 5159745_175159746) _(175227733_175227 749)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 175,159,745 | 175,159,746 | 175,227,733 | 175,227,749 |