nsv1125312
- Organism: Homo sapiens
- Study:nstd106 (Alsmadi et al. 2014)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:44,473
- Publication(s):Alsmadi 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv1125312 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 131,777,458 | - | 131,821,930 |
| nsv1125312 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187528.1 | Chr2|NT_18 7528.1 | 81,519 | 110,099 | - |
| nsv1125312 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 132,535,031 | - | 132,579,503 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3983484 | inversion | KWS2 | Sequencing | Read depth and paired-end mapping | 21,718 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv3983484 | Remapped | Pass | NT_187528.1:g.(815 19_?)_(110099_?)in v | GRCh38.p12 | Second Pass | NT_187528.1 | Chr2|NT_18 7528.1 | 81,519 | 110,099 | - |
| nssv3983484 | Remapped | Perfect | NC_000002.12:g.(13 1777458_?)_(?_1318 21930)inv | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,777,458 | - | 131,821,930 |
| nssv3983484 | Submitted genomic | NC_000002.11:g.(13 2535031_?)_(?_1325 79503)inv | GRCh37 (hg19) | NC_000002.11 | Chr2 | 132,535,031 | - | 132,579,503 |