nsv1152544
- Organism: Homo sapiens
- Study:nstd107 (John et al. 2014)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:44,430
- Publication(s):John et al. 2014
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: 300 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 300 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 Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv1152544 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 131,777,475 | - | 131,821,904 |
| nsv1152544 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187528.1 | Chr2|NT_18 7528.1 | 81,536 | 110,099 | - |
| nsv1152544 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 132,535,048 | - | 132,579,477 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3999725 | inversion | KWB1 | Sequencing | Read depth and paired-end mapping | 8,440 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv3999725 | Remapped | Pass | NT_187528.1:g.(815 36_?)_(110099_?)in v | GRCh38.p12 | Second Pass | NT_187528.1 | Chr2|NT_18 7528.1 | 81,536 | 110,099 | - |
| nssv3999725 | Remapped | Perfect | NC_000002.12:g.(13 1777475_?)_(?_1318 21904)inv | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,777,475 | - | 131,821,904 |
| nssv3999725 | Submitted genomic | NC_000002.11:g.(13 2535048_?)_(?_1325 79477)inv | GRCh37 (hg19) | NC_000002.11 | Chr2 | 132,535,048 | - | 132,579,477 |